ul. Ponczowa 12, 02-971 WARSZAWA
Tel: 22-644-6019 Fax: +48 22-644-6025
email: diagnostyka@genomed.pl www.nzoz.genomed.pl
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NZOZ Genomed ul. Ponczowa 12, 02-971 WARSZAWA Tel: 22-644-6019 Fax: +48 22-644-6025 email: diagnostyka@genomed.pl www.nzoz.genomed.pl |
| Disease | Test description | Test code |
Price [PLN] |
Turnaround time |
|---|---|---|---|---|
| AUDIOLOGY | ||||
| Alport syndrome | Alport syndrome NGS analysis of COL4A3, COL4A4 and COL4A5 genes. | AS-NGS | 2500.00 | up to 8 weeks |
| Deafness and Hereditary Hearing Loss | Deafness and Hereditary Hearing Loss Deafness (type DFNB1) - autosomal recessive, nonsyndromic. Identification of the most frequent mutations c.35delG, c.313_326del14, other mutations in the coding region of the GJB2 gene and the c.-23+1G>A (IVS1+1G>A) mutation | GJB2-2 | 375.00 | up to 3 weeks |
| Deafness and Hereditary Hearing Loss NGS analysis of over 60 genes (custom panel) | DFN-NGS | 3800.00 | up to 14 weeks | |
| Deafness and Hereditary Hearing Loss Deafness (type DFNB1) - autosomal recessive, nonsyndromic. Identification of the most frequent large deletions GJB6-D13S1830 and GJB6-D13S1854 in the GJB6 gene - supplementary to the molecular diagnostics of the GJB2 gene | GJB6-1 | 380.00 | up to 3 weeks | |
| Deafness and Hereditary Hearing Loss Deletion/duplication analysis of the GJB2, GJB3, GJB6, WFS1 and POU3F4 genes | GJB2-MLPA | 990.00 | up to 6 weeks | |
| CARDIOLOGY | ||||
| Alagille syndrome | Alagille syndrome NGS analysis of JAG1 and NOTCH2 genes | ALGS-NGS | 2100.00 | up to 8 weeks |
| Candersartan, Irbesartan, Losartan, Warfarin - activity of the CYP2C9 | Candersartan, Irbesartan, Losartan, Warfarin - activity of the P450 2C9 cytochrome Identification of the CYP2C9*2 and *3 variants | CYP2C9-1 | 660.00 | up to 4 weeks |
| Cardiomyopathy (hypertrophic and dilated) | Cardiomyopathy (hypertrophic and dilated) NGS analysis of coding regions of 33 genes, related to sudden cardiac death (SCD) and other cardio-vascular events acc to ACMG v3.1: ACTA2, ACTC1, BAG3, CASQ2, COL3A1, DES, DSC2, DSG2, DSP, FBN1, FLNC, KCNH2, KCNQ1, LMNA, MYBPC3, MYH11, MYH7, MYL2, MYL3, PKP2, PRKAG2, RBM20, RYR2, SCN5A, TGFBR1, TGFBR2, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN | KP-ACMG-NGS | 3000.00 | up to 8 weeks |
| Cardiomyopathy (hypertrophic and dilated) Panel of 80 genes known to be associated with hypertrophic, dilated and left ventricular non-compaction, based on the Whole-Exome Sequencing (WES). | KP-NGS | 3800.00 | up to 14 weeks | |
| Carvedilol, Codeine, Metoprolol, Propranolol and Timolol - activity of the CYP2D6 | Carvedilol, Codeine, Metoprolol, Propranolol and Timolol - activity of the P450 2D6 cytochrome Identification of the CYP2D6*4 and *3 variants | CYP2D6-1 | 660.00 | up to 4 weeks |
| Carvedilol, Codeine, Metoprolol, Propranolol and Timolol - assessment of the CYP2D6 activity Copy number assessment of the CYP2D6 gene by MLPA | CYP2D6-MLPA | 1120.00 | up to 6 weeks | |
| Cerebral small vessel disease (CSVD) | Cerebral small vessel disease (CSVD) NGS analysis of 7 genes related to CSVD: NOTCH3, COL4A1, COL4A2, GLA, HTRA1, APP and TREX1 | CSVD-NGS | 2500.00 | up to 8 weeks |
| Clopidogrel - analysis of the cytochrome CYP2C19 activity | Clopidogrel - assessment of the P450 2C19 cytochrome activity Identification of CYP2C19*2, *3, *6 and *17 haplotypes. | CYP2C19-1 | 660.00 | up to 4 weeks |
| Congenital thrombophilia | Congenital thrombophilia Identification of the p.Arg534Gln (V Leiden, R506Q) mutation in the F5 gene and the c.*97G>A (20210G>A) mutation in the F2 gene | F5-2 | 450.00 | up to 3 weeks |
| Costello Syndrome | Costello Syndrome Identification of the most frequent mutations in codons 12 and 13 and other mutations in exon 2 of the HRAS gene | COS-1 | 420.00 | up to 3 weeks |
| Ehlers-Danlos syndrome | Ehlers-Danlos syndrome NGS analysis of ADAMTS2, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, FKBP14, PLOD1, PRDM5, SLC39A13 and ZNF469 genes (according to the International EDS Classification 2017). | EDS-NGS | 2500.00 | up to 8 weeks |
| Ehlers-Danlos syndrome Ehlersa-Danlos Syndrome typ VI - identification of large deletions and duplications in the PLOD1 gene using MLPA 1 | EDS6-MLPA | 900.00 | up to 8 weeks | |
| Ehlers-Danlos syndrome Heritable connective tissue disorders. NGS analysis of 60 genes, responsible for clinical symptoms of Ehlers-Danlos syndrome. | EDS3-NGS | 3000.00 | up to 8 weeks | |
| Hypercholesterolemia | Hypercholesterolemia NGS analysis of LDLR, APOB, PCSK9 and LDLRAP1 genes. | FHP-NGS | 1900.00 | up to 8 weeks |
| Kabuki syndrome | Kabuki syndrome NGS analysis of the entire coding sequence of the KMT2D and KDM6A genes. | KABUKI-NGS | 2100.00 | up to 8 weeks |
| Long QT syndrome | Long QT syndrome Long QT Syndrome types 1-3 (LQTS 1-3). NGS analysis of KCNQ1, KCNH2 and SCN5A genes. | LQT-NGS | 2500.00 | up to 8 weeks |
| Marfan Syndrome | Marfan Syndrome NGS analysis of the FBN1 gene. | FBN1-NGS | 2100.00 | up to 8 weeks |
| Rasopathies | RASopathies RASopaties, including Noonan syndrome. NGS analysis of coding regions of 19 genes: BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NF1, NRAS, PPP1CB, PTPN11, RAF1, RIT1, RRAS2, SHOC2, SOS1, SOS2 and SPRED1. | RAS-NGS | 2500.00 | up to 8 weeks |
| Thoracic Aortic Aneurysms and Aortic Dissections (TAAD) | Thoracic Aortic Aneurysms and Aortic Dissections (TAAD) Screening NGS analysis of 24 genes: ABL1, ACTA2, ADAMTSL4, BGN, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, EFEMP2, ELN, FBN1, FBN2, FLCN, FLNA, LOX, MYH11, MYLK, NOTCH1, PLOD1,SMAD3, TGFB2, TGFBR2, TGFBR1, related to the disease. | TAAD-NGS | 3000.00 | up to 8 weeks |
| CYSTIC FIBROSIS | ||||
| Cystic Fibrosis (CF) | Cystic Fibrosis (CF) Identification of the p.Phe508del mutation with the possibility of detecting any of 77 mutations and variants in exon 11 of the CFTR gene | CF-1 | 300.00 | up to 3 weeks |
| Cystic Fibrosis (CF) Targeted mutation analysis in the CFTR gene - carrier testing for a mutation of choice. | CF-0 | 330.00 | up to 3 weeks | |
| Cystic Fibrosis (CF) NGS analysis of the CFTR gene. | CF-NGS | 2200.00 | up to 8 weeks | |
| DERMATOLOGY | ||||
| Ectodermal dysplasia | Ectodermal dysplasia WES | EDA-NGS | 3800.00 | up to 14 weeks |
| Genodermatoses | Genodermatoses Screening NGS analysis of genes responsible for clinical symptoms of genodermatoses (inherited skin diseases), based on Whole Exome Sequencing (WES). | GDM-NGS | 3800.00 | up to 14 weeks |
| Job Syndrome (Hyper-IgE Syndrome) | Job Syndrome (Hyper-IgE Syndrome) Screening NGS analysis of the DOCK8, SPINK5, STAT3, RAG1, RAG2, DCLRE1C genes. | HIGE-NGS | 2400.00 | up to 8 weeks |
| McCune-Albright syndrome | McCune-Albright syndrome Identification of the p.Arg201His, p.Arg201Cys, p.Gln227Leu and other variants in exons 7-9 of the GNAS gene in the affected tissue | GNAS-1 | 450.00 | up to 3 weeks |
| Netherton Syndrome | Netherton Syndrome Screening NGS analysis of the SPINK5 gene. | SPINK5-NGS | 2100.00 | up to 8 weeks |
| Neurofibromatosis | Neurofibromatosis Neurofibromatosis type I (von Recklinghausen`s Disease). Identification of large deletions and insertions in the NF1 gene using MLPA method | NF1-MLPA | 990.00 | up to 6 weeks |
| Neurofibromatosis Neurofibromatosis type I, II and Legius syndrome. NGS analysis of NF1, NF2 and SPRED1 genes. | NF-NGS | 1900.00 | up to 8 weeks | |
| Neurofibromatosis type II Neurofibromatosis type II. Identification of large deletions and duplications in the NF2 gene using the MLPA method 1 | NF2-MLPA | 990.00 | up to 8 weeks | |
| Porphyria | Porphyria Sequence analysis of the coding region of the PPOX, CPOX, HMBS and ALAD genes | PRF-NGS | 2500.00 | up to 8 weeks |
| None | Ankylosing spondylitis (Bechterews disease) Determination of the HLA-B27 allele presence 1 | HLA-2 | 380.00 | up to 4 weeks |
| Psoriasis Determination of the presence of the HLA-C*06 allele 1 | HLA-1 | 380.00 | up to 4 weeks | |
| ENDOCRINOLOGIC DISEASES | ||||
| ANDROGEN INSENSITIVITY SYNDROME | ANDROGEN INSENSITIVITY SYNDROME Sequence analysis of the coding region of the androgen receptor (AR) gene, together with a genetic sex determination | AR-SNGS | 1700.00 | up to 14 weeks |
| Congenital Adrenal Hyperplasia | Congenital Adrenal Hyperplasia Sequence analysis of the entire coding region of the CYP21A2 gene, including identification of deletions and duplications in the CYP21A2 gene using the MLPA method | WPN-1 | 1650.00 | up to 6 weeks |
| Disorder of sex development | Disorder of sex development Disorders of sexual development and differentiation. NGS analysis of coding regions of 19 genes: AR, ARX, ATRX, CHD7, CYP11A1, CYP17A1, DHCR7, DHH, DYNC2H1, HSD17B3, HSD3B2, NEK1, NR5A1, POR, SOX9, SRD5A2, SRY, STAR and WT1, to be used in the case of discrepancies between genetic and physical sex, based on Whole Exome Sequencing (WES). | XY-NGS | 3800.00 | up to 14 weeks |
| Hypogonadism, hypogonadotropic | Hypogonadism, hypogonadotropic NGS analysis of the coding sequence of 32 genes: CHD7, CYP19A1, DUSP6, FEZF1, FGF17, FGF8, FGFR1, GNRH1, GNRHR, HS6ST1, IL17RD, ANOS1 (KAL1) , KISS1, KISS1R, LEP, LEPR, LHB, LHCGR, NR0B1, NR5A1, NSMF, POLR3B, PROK2, PROKR2, PROP1, SEMA3A, SEMA3E, SOX10, SPRY4, TAC3, TACR3, WDR11, associated with symptoms of precocious or delayed puberty, performed on a basis of Whole Exome Sequencing (WES). | HORM-NGS | 3800.00 | up to 14 weeks |
| Pseudohypoparathyroidism, Albright syndrome | Pseudohypoparathyroidism, Albright syndrome Type Ib. Analysis of the methylation pattern at the GNAS locus, together with an assessment of deletions/duplications within the STX16 and GNAS genes. | PHP-MLPA | 1120.00 | up to 6 weeks |
| Pseudohypoparathyroidism, Albright syndrome Type Ia and Ic. NGS analysis of the coding sequence of the GNAS gene. | PHP-NGS | 2100.00 | up to 8 weeks | |
| Thyroid Hormone Resistance | Thyroid Hormone Resistance Sequence analysis of exons 7-10 of the THRB gene | THRB-1 | 730.00 | up to 3 weeks |
| GASTROENTEROLOGY | ||||
| Alpha1-Antitrypsin Deficiency | Alpha1-Antitrypsin Deficiency Identification of the p.Glu288Val (S allele, E264V) and p.Glu366Lys (Z allele, E342K) mutations in the SERPINA1 gene | AAT-1 | 550.00 | up to 3 weeks |
| Alpha1-Antitrypsin Deficiency Sequence analysis of the coding region of the SERPINA1 gene | AAT-3 | 750.00 | up to 4 weeks | |
| Coeliac disease | Coeliac disease Identification of the HLA-DQ2 and DQ8 haplotypes1 | CELIAKIA-1 | 400.00 | up to 4 weeks |
| Crigler-Najjar Syndrome | Crigler-Najjar Syndrome Sequence analysis of the coding region and the fragment of promoter region of the UGT1A1 gene | CRIG-1 | 1200.00 | up to 4 weeks |
| Diffuse Gastric Cancer | Diffuse Gastric Cancer NGS analysis of the entire coding sequence of the CDH1 gene. | CDH-NGS | 2100.00 | up to 8 weeks |
| Fructosemia | Fructosemia Identification of the p.Ala150Pro and p.Ala175Asp mutations and other located in the exon 5 of the ALDOB gene | ALDOB-1 | 450.00 | up to 3 weeks |
| Gilbert Syndrome | Gilbert Syndrome Analysis of the number of (TA)n repeats in the UGT1A1 gene promoter | UGT-1 | 370.00 | up to 3 weeks |
| Haemochromatosis | Haemochromatosis Identification of the most frequent mutations p.Cys282Tyr and p.His63Asp together with other mutations in exons 2 and 4 of the HFE gene | HFE-1 | 550.00 | up to 3 weeks |
| Haemochromatosis NGS analysis of HFE, HJV, HAMP, TFR2,BMP6 and SLC40A1 genes. | HFE-NGS | 2500.00 | up to 8 weeks | |
| Inherited polyposes | Inherited polyposes Familial Adenomatous Polyposis (FAP). Identification of the 4 most frequent mutations in the APC gene: c.3927_3931delAAAGA, c.3183_3187delACAAA, c.3202_3205delTCAA, p.Tyr500* and other mutations in exon 14 and analysed fragment of exon 18 of the APC gene | APC-1 | 600.00 | up to 4 weeks |
| Inherited polyposes Adenomatous polyposis (FAP, MAP, juvenile). Screening NGS analysis of APC, MUTYH, BMPR1A and SMAD4 genes | POLYP-NGS | 2500.00 | up to 8 weeks | |
| Lynch syndrome, hereditary non-polyposis colorectal cancer (HNPCC) | Lynch syndrome, hereditary non-polyposis colorectal cancer (HNPCC) NGS analysis of MLH1, MSH2, MLH3, MSH6 and PMS2 genes sequence and EPCAM gene deletion | HNPCC-NGS | 2500.00 | up to 8 weeks |
| Pancreatitis (acute and chronic) | Pancreatitis (acute and chronic) Dominant inheritance and early onset. Identification of the most frequent variants s in the PRSS1 gene responsible for pancreatitis (p.Arg122His, p.Arg122Cys, p.Ala16Val, p.Asn29Ile). | ZT-2 | 600.00 | up to 4 weeks |
| Pancreatitis (acute and chronic) NGS analysis of the coding sequence of disease-related genes: PRSS1, SPINK1, CFTR, CTRC, CASR and CPA1 | ZT-NGS | 2500.00 | up to 8 weeks | |
| Polycystic kidney disease | Polycystic kidney disease Analysis of the coding sequence of the COL4A3, COL4A4, COL4A5, HNF1B, NOTCH2, PKD1*, PKD2, PKHD1, TSC1, TSC2 and VHL genes, using NGS. *NOTE: NGS testing has limited clinical sensitivity for the PKD1 gene. | PKD-NGS | 2500.00 | up to 8 weeks |
| Porphyria | Porphyria Sequence analysis of the coding region of the PPOX, CPOX, HMBS and ALAD genes | PRF-NGS | 2500.00 | up to 8 weeks |
| GENOMIC RESEARCH | ||||
| Artrogrypoza | Arthrogryposis Screening NGS analysis of genes responsible for clinical symptoms of arthrogryposis, based on Whole Exome Sequencing (WES). | ARTG-NGS | 3800.00 | up to 14 weeks |
| Clinical exome | Clinical exome Whole Exome Sequencing (WES) with the subsequent analysis restricted to clinical indications. Including an analysis of:
The test price includes two genetic consultations - before and after genetic testing. The most comprehensive clinical WES in Poland, performed in our own laboratory. | EXOME-1 | 4000.00 | up to 14 weeks |
| Clinical exome Re-analysis of the whole exome sequencing data obtained using the EXOME-1 test (WES) | EXOME-2 | 1300.00 | to be agreed | |
| Clinical exome MAXIMUM Whole Exome Sequencing (WES) with the subsequent analysis restricted to clinical indications. Including an analysis of:
Segregation analysis for positive results (depending on the availability of control samples from parents/siblings). The test price includes two genetic consultations - before and after genetic testing. The most comprehensive clinical WES in Poland, performed in our own laboratory, including the mitochondrial genome analysis. | EXOME-MAX | 4700.00 | up to 14 weeks | |
| Clinical exome MAXIMUM TRIO Whole Exome Sequencing (WES) for the patient and her/his parents with the analysis restricted to the clinical problem. | EXOME-TRIO | 11000.00 | up to 14 weeks | |
| Clinical genome | Clinical genome Clinical genome analysis based on Whole Genomed Sequencing (WGS). The analysis scope depending on the clinical indications. Sanger sequencing confirmation of pathogenic/likely pathogenic variants and segregation analysis for positive results. | GENOM-1 | 9000.00 | up to 14 weeks |
| Clinical genome Re-analysis of the whole genome sequencing data obtained using the GENOM-1 test (WGS) | GENOM-2 | 1300.00 | to be agreed | |
| Congenital immunodeficiencies | Congenital immunodeficiencies Screening NGS analysis of entire coding sequence of genes responsible for clinical symptoms of congenital immunodeficiency, based on Whole Exome Sequencing (WES). | IMUN-NGS | 3800.00 | up to 14 weeks |
| Congenital immunodeficiencies Including severe combined immunodeficiency (SCID). NGS analysis of entire coding sequence of 25 genes associated with disease symptoms: ADA, AK2, ATM, CD3D, CD3E, CD247, CORO1A, DCLRE1C, DOCK8, FOXN1, IL2RG, IL7RA, JAK3, LIG4, NHEJ1, ORAI1, PNP, PRKDC, PTPRC, RAC2, RAG1, RAG2, STIM1, TBX1, ZAP70. | IMUN2-NGS | 3000.00 | up to 8 weeks | |
| Genodermatoses | Genodermatoses Screening NGS analysis of genes responsible for clinical symptoms of genodermatoses (inherited skin diseases), based on Whole Exome Sequencing (WES). | GDM-NGS | 3800.00 | up to 14 weeks |
| Hereditary Sensory and Motor Neuropathies | Hereditary Sensory and Motor Neuropathies CMT1X. Analysis of the coding sequence of the GJB1 gene | CMT1X-1 | 400.00 | up to 8 weeks |
| Hereditary Sensory and Motor Neuropathies Charcot-Marie-Tooth Neuropathy Type 1A (CMT1A) and HNPP. Identification of large duplications and deletions in the PMP22 gene using the MLPA method. | CMT-MLPA | 990.00 | up to 6 weeks | |
| Hereditary Sensory and Motor Neuropathies Most common hereditary polyneuropathies. NGS analysis of the entire coding sequence of the GJB1, HINT1, MPZ, PMP22, GARS1, GDAP1, IGHMBP2 genes, responsible for the most common types of Charcot-Marie-Tooth disease (after exclusion of the PMP22 duplication - > test code CMT-MLPA). | HNEUR-SNGS | 1750.00 | up to 14 weeks | |
| Hereditary Sensory and Motor Neuropathies NGS analysis of the coding sequence of over 80 genes (proprietary custom panel, including Charcot-Marie-Tooth disease, CMT), based on Whole Exome Sequencing (WES). | HNEUR-NGS | 3800.00 | up to 14 weeks | |
| Hypogonadism, hypogonadotropic | Hypogonadism, hypogonadotropic NGS analysis of the coding sequence of 32 genes: CHD7, CYP19A1, DUSP6, FEZF1, FGF17, FGF8, FGFR1, GNRH1, GNRHR, HS6ST1, IL17RD, ANOS1 (KAL1) , KISS1, KISS1R, LEP, LEPR, LHB, LHCGR, NR0B1, NR5A1, NSMF, POLR3B, PROK2, PROKR2, PROP1, SEMA3A, SEMA3E, SOX10, SPRY4, TAC3, TACR3, WDR11, associated with symptoms of precocious or delayed puberty, performed on a basis of Whole Exome Sequencing (WES). | HORM-NGS | 3800.00 | up to 14 weeks |
| Inborn metabolic disorders | Inborn metabolic disorders NGS analysis of the coding sequences of over 600 genes, performed on a basis of Whole Exome Sequencing (WES). | IMD-NGS | 3800.00 | up to 14 weeks |
| Inborn metabolic disorders NGS analysis of the coding sequence of 34 genes related to hyperammonemia (including urea cycle disorders): ACADM, ACADS, ACADVL, ALDH18A1, ARG1, ASL, ASS1, BCKDHA, BCKDHB, CPS1, CPT1A, CPT2, DBT, ETFA, ETFB, ETFDH, GLUD1, HADHA, HADHB, HLCS, HMGCL, IVD, MCCC1, MCCC2, MMAA, MMAB, MUT, NAGS, OTC, PCCA, PCCB, SLC22A5, SLC25A13 and SLC25A20. | UREA-NGS | 3000.00 | up to 8 weeks | |
| Intellectual disability | Intellectual disability Screening NGS analysis of coding sequences of genes responsible for clinical symptoms of intellectual disability, based on Whole Exome Sequencing (WES). | NI-NGS | 3800.00 | up to 14 weeks |
| Leukodystrophy | Leukodystrophy Metachromatic leukodystrophy. NGS analysis of the coding sequences of the ARSA and PSAP genes responsible for MLD symptoms. | MLD-NGS | 2100.00 | up to 8 weeks |
| Leukodystrophy Adult leukodystrophies. Screening analysis of the coding sequence of genes associated with clinical manifestations of leukodystrophies, based on Whole Exome Sequencing (WES). | WMD2-NGS | 3800.00 | up to 14 weeks | |
| Leukodystrophy Childhood leukodystrophies. Screening analysis of the coding sequence of genes associated with clinical manifestations of leukodystrophies, based on Whole Exome Sequencing (WES). | WMD-NGS | 3800.00 | up to 14 weeks | |
| Malignant hyperthermia | Malignant Hyperthermia NGS analysis of the entire coding region of the RYR1, CACNA1S and STAC3 genes. | MHI-NGS | 2500.00 | up to 8 weeks |
| Mitochondrial Diseases | Mitochondrial Diseases NGS analysis of the mitochondrial genome | mtDNA-NGS | 1200.00 | up to 8 weeks |
| Mitochondropathies Screening analysis of the coding sequence of nuclear genes, associated with clinical manifestations of mitochondropathy, as well as mitochondrial genome analysis, based on Whole Exome Sequencing (WES). | MIT-NGS | 3800.00 | up to 14 weeks | |
| Myopathy | Myopathy congenital NGS analysis of the entire coding sequence of the RYR1, DNM2 and NEB genes, responsible for the most common congenital myopathies. | MIOP-SNGS | 1700.00 | up to 14 weeks |
| Myopathy Most common metabolic myopathies. NGS analysis of the entire coding sequence of the PYGM and CPT2 genes responsible for the most common types of metabolic myopathies: glycogen storage disease type V (muscle glycogen phosphorylase deficiency) and carnitine palmitoyltransferase II deficiency. | MIOPM-SNGS | 1700.00 | up to 14 weeks | |
| Myotonia | Myotonic dystrophy Myotonic dystrophy (DM) - single type. Screening either for DM1 (CTG repeat expansion in the DMPK gene) or for DM2 (expansion of complex repeat motifs (TG)n(TCTG)n(CCTG)n in the CNBP gene)1. | DM-POJ | 850.00 | up to 10 weeks |
| Myotonia Most common myotonies. NGS analysis of the entire coding sequence of the CLCN1 and SCN4A genes responsible for the most common types of non-dystrophic myotonies. | ZMIO-SNGS | 1700.00 | up to 14 weeks | |
| Myotonic dystrophy Myotonic Dystrophy. Screening for the CTG repeat expansion in the DMPK gene and complex repeat motif(TG)n(TCTG)n(CCTG)n expansion in the CNBP gene 1 | DM1-DM2 | 1150.00 | up to 10 weeks | |
| Neuromuscular diseases | Neuromuscular diseases NGS analysis of the coding sequence of over 700 genes (including those located in the mitochondrial genome), based on Whole Exome Sequencing (WES). | NMD-NGS | 3800.00 | up to 14 weeks |
| Mitochondropathies Screening analysis of the coding sequence of nuclear genes, associated with clinical manifestations of mitochondropathy, as well as mitochondrial genome analysis, based on Whole Exome Sequencing (WES). | MIT-NGS | 3800.00 | up to 14 weeks | |
| Newborn screening | INFANO Test NGS screening for infants and little children, covering more than 70 genetic conditions for which prevention or treatment options are available. Testing includes metabolic diseases, peadiatric cancers, cardiac arrhythmias and other disorders, such as malignant hyperthermia, Leber congenital amaurosis (RPE65 gene). | INFANO | 2400.00 | up to 8 weeks |
| Parkinson disease | Parkinson disease Analysis of the coding sequence of over 20 genes associated with the disease symptoms, including PRKN and PARK7, based on Whole Exome Sequencing (WES). | PARK-NGS | 3800.00 | up to 14 weeks |
| Prophylactic Whole Genome Analysis | BLUE GENOME Whole Genome Sequencing (WGS). Preventive genome analysis using Next Generation Sequencing, including a diagnostic analysis and report. | GENOM-BLUE | 9000.00 | up to 14 weeks |
| GOLDEN GENOME Whole Genome Sequencing (WGS). Preventive genome analysis using Next Generation Sequencing, including a diagnostic analysis and comprehensive report.
| GENOM-Z | 9900.00 | up to 16 weeks | |
| SILVER GENOME Whole-genome sequencing (WGS). Bioinformatic analysis of whole genome data with a basic report provided together with genome data in FASTQ, BAM, and VCF file formats, as well as datasets of identified variants with annotations, which constitute the basis of the report. | GENOM-S | 6000.00 | up to 11 weeks | |
| GYNECOLOGY and INFERTILITY | ||||
| ANDROGEN INSENSITIVITY SYNDROME | ANDROGEN INSENSITIVITY SYNDROME Sequence analysis of the coding region of the androgen receptor (AR) gene, together with a genetic sex determination | AR-SNGS | 1700.00 | up to 14 weeks |
| Congenital Adrenal Hyperplasia | Congenital Adrenal Hyperplasia Sequence analysis of the entire coding region of the CYP21A2 gene, including identification of deletions and duplications in the CYP21A2 gene using the MLPA method | WPN-1 | 1650.00 | up to 6 weeks |
| Disorder of sex development | Disorder of sex development Disorders of sexual development and differentiation. NGS analysis of coding regions of 19 genes: AR, ARX, ATRX, CHD7, CYP11A1, CYP17A1, DHCR7, DHH, DYNC2H1, HSD17B3, HSD3B2, NEK1, NR5A1, POR, SOX9, SRD5A2, SRY, STAR and WT1, to be used in the case of discrepancies between genetic and physical sex, based on Whole Exome Sequencing (WES). | XY-NGS | 3800.00 | up to 14 weeks |
| Hypogonadism, hypogonadotropic | Hypogonadism, hypogonadotropic NGS analysis of the coding sequence of 32 genes: CHD7, CYP19A1, DUSP6, FEZF1, FGF17, FGF8, FGFR1, GNRH1, GNRHR, HS6ST1, IL17RD, ANOS1 (KAL1) , KISS1, KISS1R, LEP, LEPR, LHB, LHCGR, NR0B1, NR5A1, NSMF, POLR3B, PROK2, PROKR2, PROP1, SEMA3A, SEMA3E, SOX10, SPRY4, TAC3, TACR3, WDR11, associated with symptoms of precocious or delayed puberty, performed on a basis of Whole Exome Sequencing (WES). | HORM-NGS | 3800.00 | up to 14 weeks |
| Infertility | Infertility Identification of 288 mutations in the CFTR gene, including 9 mutations that are the most frequent in male infertility (p.Phe508del (F508del), c.54-5940_273+10250del21kb (dele2,3(21kb)), c.3718-2477C>T (3849+10kbC>T), c.1210-12T[5] (IVS8 (T)5, IVS8-5T), c.1210-34TG[13]T[5] (IVS8 (TG)13(T)5), p.Arg117His (R117H), p.Arg553* (R553X), p.Gly551Asp (G551D), p.Gly542* (G542X)) | NP-1 | 640.00 | up to 3 weeks |
| Infertility Analysis of microdeletions in the AZF region of the Y chromosome (analysis of 6 loci) | NP-2 | 420.00 | up to 3 weeks | |
| Infertility The panel includes tests performed to diagnose reasons of male infertility and before in vitro fertilization (analysis of selected mutations of the CFTR, deletions in the AZF region and karyotype)1 | NP-5 | 1370.00 | up to 5 weeks | |
| Lymphocyte Karyotype | Lymphocyte Karyotype Analysis of quantitative and qualitative chromosome aberrations using classical cytogenetic methods 1 3 | KAR-1 | 590.00 | up to 5 weeks |
| Lymphocyte Karyotype Analysis of quantitative and qualitative chromosome aberrations using classical cytogenetic methods for both parents 1 3 | KAR-2 | 550.00 | up to 5 weeks | |
| Molecular karyotype (array CGH) | Molecular karyotype (array CGH) Identification of genome dosage imbalances (aneuploidies, deletions, duplications, unbalanced translocations) with array CGH method 1 | aCGH-1 | 1950.00 | up to 6 weeks |
| Molecular karyotype (array CGH) Autism - identification of genome dosage imbalances at the loci linked to clinical symptoms of the disorder using the array CGH method 1 | aCGH-2 | 2750.00 | up to 6 weeks | |
| Parento | Parento PARENTO MAXIMUM - for an individual Carrier screening for genetic conditions Analysis of coding sequences of over 1,700 genes (females) or more than 1,500 (males) on the basis of Whole-Exome Sequencing (WES). The test covers all known genes responsible for recessive and sex-linked diseases that can be reliably assessed by NGS, and analysis for spinal muscular atrophy (SMA) (both sexes), congenital adrenal hyperplasia (CAH) (both sexes) , and fragile X syndrome (FraX) (women). | PARENMAX-1 | 5500.00 | up to 12 weeks |
| Parento PARENTO MAXIMUM - for a couple Carrier screening for genetic conditions Analysis of coding sequences of over 1,700 genes (females) or more than 1,500 (males) on the basis of Whole-Exome Sequencing (WES). The test covers all known genes responsible for recessive and sex-linked diseases that can be reliably assessed by NGS, analysis for spinal muscular atrophy (SMA) (both sexes), congenital adrenal hyperplasia (CAH) (both sexes), and fragile X syndrome (FraX) (women). Price per person - the test must be ordered for each person in the couple. | PARENMAX-2 | 4900.00 | up to 12 weeks | |
ParentoPARENTO OPTIMUM - for an invidual
| PARENOPT-1 | 3900.00 | up to 8 weeks | |
ParentoPARENTO OPTIMUM - for a couple
Price per person - the test must be ordered for each person in the couple. | PARENOPT-2 | 3400.00 | up to 8 weeks | |
| Premature Ovarian Failure | Premature Ovarian Failure Identification of the normal number of (CGG) triplets in the 5’UTR of the FMR1 gene - screening test | POF-1 | 400.00 | up to 5 weeks |
| Premature Ovarian Failure Analysis of the entire coding sequence of BMP15, CYP17A1, CYP19A1, FIGLA, FOXL2, FSHB, FSHR, GALT, GDF9, GNAS, GNRHR, KISS1, KISS1R, LHB, LHCGR, NOBOX, NR5A1, POR, PROK2, PROKR2, SEMA3A, STAG3, TAC3, TACR3, WDR11, WT1, ZP1 (among other genes) when primary ovarian failure or early ovarian reserve depletion is suspected; second-tier diagnostics after POF-1. | POF-NGS | 3800.00 | up to 14 weeks | |
| Recurrent Pregnancy Loss | Recurrent Pregnancy Loss Identification of two mutations: p.Arg534Gln (V Leiden, R506Q) in the F5 gene and c.*97G>A (20210G>A) in the F2 gene (in accordance with the Recommendations of the Polish Gynecological Society and the Standards and Guidelines for Clinical Genetics Laboratories, 2006, Am. College of Medical Genetics) | POR-1 | 420.00 | up to 3 weeks |
| Recurrent Pregnancy Loss Badanie aneuploidii chromosomowych w materiale z poronienia - ocena liczby poszczególnych chromosomów 1 | POR-3 | 990.00 | up to 5 weeks | |
| Recurrent Pregnancy Loss Identyfication of the M2 haplotype in the promotor region of the ANXA5 gene. | POR-4 | 395.00 | up to 3 weeks | |
| Recurrent Pregnancy Loss | aCGH-3 | 1720.00 | up to 6 weeks | |
| Sex Determination | Sex Determination Analysis of genetic markers specific to the AMGX, AMGY and SRY genes | SRY-1 | 300.00 | up to 3 weeks |
| Sex determination of miscarriage material | Sex determination of miscarriage material Analysis of tissue from the miscarriage using genetic markers specific to the AMGX, AMGY and SRY genes | MPXY-1 | 400.00 | up to 3 weeks |
| METABOLIC DISEASES | ||||
| CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY Identification of the p.Ser113Leu mutation in the CPT2 gene | CPT2-1 | 450.00 | up to 4 weeks |
| Cystinosis | Cystinosis Identification of the homozygous 57kb deletion in the CTNS gene - verification of the clinical diagnosis of the disease | CTNS-1 | 600.00 | up to 3 weeks |
| Diabetes | Diabetes Adult-onset insulin-dependent diabetes mellitus and type II diabetes. NGS analysis of the entire coding sequence of 22 genes: ABCC8, AKT2, ENPP1, G6PC2, GCK, GLUD1, GPD2, HADH, HMGA1, INS, INSR, IRS1, KCNJ11, MAPK8IP1, MTNR1B, PAX4, PPARG, PPP1R3A, PTPN1, RETN, RFX6 and SLC16A1, known to predispose to the development of the disease. | DIABETES-NGS | 3000.00 | up to 8 weeks |
| Diabetes MODY-type diabetes. NGS analysis of the entire coding sequence of the ABCC8, APPL1, BLK, CEL, GCK, GLUD1, HADH, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4 and PDX1 genes, associated with the disease symptoms. | MODY-NGS | 2500.00 | up to 8 weeks | |
| Fabry disease | Fabry disease Sequence analysis of the whole coding region of the GLA gene | GLA-3 | 1320.00 | up to 6 weeks |
| Galactosemia | Galactosemia Identification of the two most common mutations p.Gln188Arg, p.Lys285Asn and other mutations in exons 6-9 of the GALT gene | GALT-1 | 600.00 | up to 3 weeks |
| Gaucher`s Disease | Gaucher`s Disease Identification of the most frequent mutations c.1226A>G, p.Asn409Ser (N370S), c.1448T>C, p.Leu483Pro (L444P), c.84dupG (84GG), c.115+1G>A (IVS2+1G>A) and other mutations in the exons 3, 10 and 11 of the GBA gene | GD-2 | 730.00 | up to 3 weeks |
| Hemolytic anemia | Hemolytic anemia Haemolytic anaemia/glucose-6-phosphate dehydrogenase deficiency. NGS analysis of the entire coding sequence of the G6PD gene. | G6PD-NGS | 2100.00 | up to 8 weeks |
| Hereditary hypophosphatemic rickets | Hereditary hypophosphatemic rickets Phypophosphatemic rickets (various types). NGS analysis of the entire coding sequence of 16 genes: ALPL, ANKH, AP2S1, CASR, CLCN5, CYP27B1, CYP2R1, DMP1, ENPP1, FAH, FGF23, PHEX, SLC34A1, SLC34A3, SLC9A3R1, VDR, associated with disease symptoms . | PHEX-NGS | 3000.00 | up to 8 weeks |
| Inborn metabolic disorders | Inborn metabolic disorders NGS analysis of the coding sequences of over 600 genes, performed on a basis of Whole Exome Sequencing (WES). | IMD-NGS | 3800.00 | up to 14 weeks |
| Inborn metabolic disorders NGS analysis of the coding sequence of 34 genes related to hyperammonemia (including urea cycle disorders): ACADM, ACADS, ACADVL, ALDH18A1, ARG1, ASL, ASS1, BCKDHA, BCKDHB, CPS1, CPT1A, CPT2, DBT, ETFA, ETFB, ETFDH, GLUD1, HADHA, HADHB, HLCS, HMGCL, IVD, MCCC1, MCCC2, MMAA, MMAB, MUT, NAGS, OTC, PCCA, PCCB, SLC22A5, SLC25A13 and SLC25A20. | UREA-NGS | 3000.00 | up to 8 weeks | |
| Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency | Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency Identification of the p.Glu510Gln mutation in the HADHA gene, frequent in Polish patients with LCHAD deficiency | LCHAD-1 | 450.00 | up to 3 weeks |
| McCune-Albright syndrome | McCune-Albright syndrome Identification of the p.Arg201His, p.Arg201Cys, p.Gln227Leu and other variants in exons 7-9 of the GNAS gene in the affected tissue | GNAS-1 | 450.00 | up to 3 weeks |
| Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) | Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) Identification of the most frequent mutation p.Lys329Glu (K304E) and other mutations in the exon 11 of the ACADM gene | MCAD-1 | 450.00 | up to 3 weeks |
| Mitochondrial Diseases | Mitochondrial Diseases NGS analysis of the mitochondrial genome | mtDNA-NGS | 1200.00 | up to 8 weeks |
| Mitochondropathies Screening analysis of the coding sequence of nuclear genes, associated with clinical manifestations of mitochondropathy, as well as mitochondrial genome analysis, based on Whole Exome Sequencing (WES). | MIT-NGS | 3800.00 | up to 14 weeks | |
| Mucopolysaccharidosis | Mucopolysaccharidosis Mucopolysaccharidosis type I, II, IIIA-D, IVA, IVB, VI and VII. NGS analysis of the entire coding sequence of the IDUA, IDS, SGSH, NAGLU, HGSNAT, GNS, GALNS, GLB1, ARSB and GUSB genes. | MPS-NGS | 2500.00 | up to 8 weeks |
| Neuronal ceroid lipofuscinosis | Neuronal ceroid lipofuscinosis CLN2 disease, classic late infantile. Identification of the most frequent p.Arg208*, c.509-1G>C (IVS5-1G>C) and other mutations in exons 5 and 6 of the TPP1 gene | CLN2-1 | 360.00 | up to 3 weeks |
| Neuronal ceroid lipofuscinosis CLN3 disease, classic juvenile. Identification of the most frequent CLN3 deletion | CLN3-1 | 600.00 | up to 3 weeks | |
| Neuronal ceroid lipofuscinosis NGS analysis of the entire coding sequence of 13 genes: ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1 and TPP1, associated with clinical symptoms of neuronal ceroid lipofuscinosis. | CLN-NGS | 3000.00 | up to 8 weeks | |
| Newborn screening | INFANO Test NGS screening for infants and little children, covering more than 70 genetic conditions for which prevention or treatment options are available. Testing includes metabolic diseases, peadiatric cancers, cardiac arrhythmias and other disorders, such as malignant hyperthermia, Leber congenital amaurosis (RPE65 gene). | INFANO | 2400.00 | up to 8 weeks |
| Nonketotic Hyperglycinemia | Nonketotic Hyperglycinemia Sequence analysis of the coding region of the GLDC, AMT, GCSH genes | NHG-NGS | 2500.00 | up to 8 weeks |
| Phenylketonuria | Phenylketonuria Identification of the most frequent mutations p.Arg408Trp, p.Arg158Gln, c.1315+1G>A (IVS12+1G>A) and c.1066-11G>A (IVS10-11G>A) as well as of other mutations in exons 5, 11 and 12 of the PAH gene | PAH-1 | 600.00 | up to 3 weeks |
| Pompe disease | Pompe disease NGS analysis of the coding region of the GAA gene | GAA-NGS | 2100.00 | up to 8 weeks |
| Smith-Lemli-Opitz Syndrome | Smith-Lemli-Opitz Syndrome Identification of p.Trp151*, p.Val326Leu, p.Leu157Pro, p.Arg353Trp, IVS8-1G>C, p.Arg446Gln and other mutations in the exons 4,6 and 9 of the DHCR7 gene | SLOS-1 | 700.00 | up to 4 weeks |
| Surfactant deficiency | Surfactant deficiency Screening NGS analysis of SFTPB, SFTPC and ABCA3 genes | SURF-NGS | 2500.00 | up to 8 weeks |
| Trimethylaminuria (Fish Odor Syndrome) | Trimethylaminuria (Fish Odor Syndrome) Sequence analysis of the coding region of the FMO3 gene (NGS) | FMO3-NGS | 2100.00 | up to 8 weeks |
| NEUROLOGY | ||||
| Aceruloplasminemia | Aceruloplasminemia NGS analysis of the CP gene | CP-NGS | 2100.00 | up to 8 weeks |
| Adrenoleucodystrophy | Adrenoleukodystrophy Adrenoleukodystrophy. Sequence analysis of the coding region of the ABCD1 gene | ALD-1 | 1900.00 | up to 6 weeks |
| Alexander Disease | Alexander Disease Analiza sekwencji kodującej genu GFAP z wykorzystaniem metod sekwencjonowania nowej generacji | ALXD-NGS | 2100.00 | up to 8 weeks |
| Alzheimer Disease | Alzheimer Disease Early onset disease. NGS analysis of APP, CHCHD10, CHMP2B, CSF1R, FUS, GRN, MAPT, NOTCH3, PRNP, PSEN1, PSEN2, SIGMAR1, SORL1, SQSTM1, TARDBP, TBK1, TREM2, UBQLN2, VCP, genes | ALZ-NGS | 3000.00 | up to 8 weeks |
| Amyotrophic lateral sclerosis (ALS) | Amyotrophic lateral sclerosis (ALS) NGS analysis of the entire coding sequence of 24 genes related to ALS: ALS2, ANG, ANXA11, DCTN1, ERBB4, FIG4, FUS, HNRNPA1, KIF5A, MATR3, NEFH, NEK1, PFN1, PRPH, SIGMAR1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP and 13 other in differential diagnosis of FTD and Alzheimer disease. NOTE! This test does not include identification of the (GGGGCC)n expansion in the C9orf72 gene -> test code ALS-1) | ALS-NGS | 2800.00 | up to 8 weeks |
| Amyotrophic lateral sclerosis (ALS) ALS/FTD. Identification of the (GGGGCC) repeat expansion in the C9orf72 gene (genetic background in 37-45% of familial cases). | ALS-1 | 860.00 | up to 4 weeks | |
| Amyotrophic lateral sclerosis (ALS) Most common motor neuron diseases (ALS). Analysis of the coding sequences of the FUS, SOD1 and TARDBP genes, associated with the most common types of congenital amyotrophic lateral sclerosis (after the exclusion of the (GGGGCC) repeat expansion in the C9orf72 gene -> test code ALS-1). | ALS-SNGS | 1700.00 | up to 8 weeks | |
| Angelman Syndrome | Angelman Syndrome Sequence analysis of exons 7-16 of the UBE3A gene - supplementary to the ANGEL-1 test | ANGEL-2 | 1200.00 | up to 8 weeks |
| Angelman Syndrome Analysis of a methylation pattern and deletions in the 15q11-q13 region (MLPA) | ANGEL-1 | 800.00 | up to 8 weeks | |
| Ataxia | Ataxia First-tier testing for spinal cerebellar ataxia (SCA), including SCA1, SCA2 i SCA3 1 | SCA-1 | 1450.00 | to be agreed |
| Ataxia Childhood Ataxias. Screening analysis of the coding sequence of genes associated with clinical manifestations of ataxia, based on Whole Exome sequencing (WES). NOTE - this testing should be preceded by exclusion of the most common types resulting from expansion of repetitive motifs (SCA-1 test). | SCA-NGS | 3800.00 | up to 14 weeks | |
| Ataxia Adult ataxias. Screening analysis of the coding sequence of genes associated with clinical manifestations of ataxia, based on Whole Exome Sequencing (WES). NOTE - this testing should be preceded by exclusion of the most common types resulting from expansion of repetitive motifs (SCA-1 test). | SCA2-NGS | 3800.00 | up to 14 weeks | |
| CANVAS syndrome Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome. Identification of biallelic RFC1 (AAGGG) repeat expansion. | CANVAS | 1550.00 | up to 12 weeks | |
| Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy - CADASIL | Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy - CADASIL NGS analysis of the NOTCH3 gene. | NOTCH3-NGS | 2100.00 | up to 8 weeks |
| Cerebral small vessel disease (CSVD) | Cerebral small vessel disease (CSVD) NGS analysis of 7 genes related to CSVD: NOTCH3, COL4A1, COL4A2, GLA, HTRA1, APP and TREX1 | CSVD-NGS | 2500.00 | up to 8 weeks |
| Congenital central hypoventilation syndrome, CCHS | Congenital central hypoventilation syndrome, CCHS Sequence analysis of the coding region of the PHOX2B gene | PHOX2B-1 | 1050.00 | up to 4 weeks |
| Epilepsy | Childhood absence epilepsy Childhood absence epilepsy (CAE). NGS analysis of 6 genes related to CAE: GABRG2, GABRA1, SLC2A1, JRK, GABRB3 and CACNA1H | CAE-NGS | 2500.00 | up to 8 weeks |
| Dravet syndrome Dravet and Dravet-like syndrome. NGS analysis of the entire coding sequence of 7 genes related to the disease: SCN1A, GABRG2, SCN2A, SCN9A, GABRA1, PCDH19 and STXBP1. | DRAVET-NGS | 2500.00 | up to 8 weeks | |
| Gene panel - epilepsy Screening NGS analysis of genes responsible for clinical symptoms of epilepsy and genetic syndromes with epilepsy, based on Whole Exome Sequencing (WES). | EPI1-NGS | 3800.00 | up to 14 weeks | |
| Progressive myoclonic epilepsy Progressive myoclonic epilepsy (EPM1), Unverricht-Lundborg disease (ULD). Identification of an expansion of the (CCCCGCCCCGCG)n motif repeat in the CSTB gene. This expansion represents the most common genetic cause of EPM1 (90% alleles) | CSTB-1 | 990.00 | up to 8 weeks | |
| Fragile X Syndrome | Fragile X Syndrome Analysis of premutation and dynamic mutation in the FMR1 gene - supplementary to FRAX-3 test 1 | FRAX-2 | 990.00 | up to 10 weeks |
| Fragile X Syndrome Identification of the normal number of (CGG) triplets in the FMR1 gene - a screening test | FRAX-3 | 400.00 | up to 5 weeks | |
| Frontotemporal dementia (FTD) | Frontotemporal dementia (FTD) NGS analysis of 11 genes related to FTD and other genetic syndromes with dementia: ANG, CHCHD10, CHMP2B, FUS, GRN, MAPT, PRNP, SQSTM1, TARDBP, UBQLN2 and VCP. NOTE! Identification of the (GGGGCC)n expansion in C9orf72 is not included! | FTD-NGS | 2500.00 | up to 8 weeks |
| Genodermatoses | Genodermatoses Screening NGS analysis of genes responsible for clinical symptoms of genodermatoses (inherited skin diseases), based on Whole Exome Sequencing (WES). | GDM-NGS | 3800.00 | up to 14 weeks |
| Hereditary Sensory and Motor Neuropathies | Hereditary Sensory and Motor Neuropathies CMT1X. Analysis of the coding sequence of the GJB1 gene | CMT1X-1 | 400.00 | up to 8 weeks |
| Hereditary Sensory and Motor Neuropathies Charcot-Marie-Tooth Neuropathy Type 1A (CMT1A) and HNPP. Identification of large duplications and deletions in the PMP22 gene using the MLPA method. | CMT-MLPA | 990.00 | up to 6 weeks | |
| Hereditary Sensory and Motor Neuropathies Most common hereditary polyneuropathies. NGS analysis of the entire coding sequence of the GJB1, HINT1, MPZ, PMP22, GARS1, GDAP1, IGHMBP2 genes, responsible for the most common types of Charcot-Marie-Tooth disease (after exclusion of the PMP22 duplication - > test code CMT-MLPA). | HNEUR-SNGS | 1750.00 | up to 14 weeks | |
| Hereditary Sensory and Motor Neuropathies NGS analysis of the coding sequence of over 80 genes (proprietary custom panel, including Charcot-Marie-Tooth disease, CMT), based on Whole Exome Sequencing (WES). | HNEUR-NGS | 3800.00 | up to 14 weeks | |
| Hereditary spastic paraplegia (HSP) | Hereditary spastic paraplegia (HSP) Identification of large deletions i duplications in the SPAST and ATL1 genes using MLPA method | SPG4-MLPA | 990.00 | up to 6 weeks |
| Hereditary spastic paraplegia (HSP) NGS screening of SPAST, ATL1, KIF5A, REEP1, CYP7B1, SPG11 and KIF1A genes | SPG-NGS1 | 2500.00 | up to 8 weeks | |
| Hereditary spastic paraplegia (HSP) Early-onset hereditary spastic paraplegia. Screening NGS analysis of genes responsible for clinical symptoms of spastic paraplegia, based on Whole Exome Sequencing (WES). | SPG-NGS2 | 3800.00 | up to 14 weeks | |
| Hereditary spastic paraplegia (HSP) Hereditary adult-onset spastic paraplegia. Screening NGS analysis of genes responsible for clinical symptoms of spastic paraplegia, based on Whole Exome Sequencing (WES). | SPG-NGS3 | 3800.00 | up to 14 weeks | |
| Hereditary spastic paraplegia (HSP) Identification of large deletions and duplications in the SPG7 and REEP1 genes using the MLPA method | SPG7-MLPA | 990.00 | up to 8 weeks | |
| Homocystinuria | Homocystinuria NGS analysis of the entire coding sequence of the CBS gene | CBS-NGS | 2100.00 | up to 8 weeks |
| Intellectual disability | Intellectual disability Screening NGS analysis of coding sequences of genes responsible for clinical symptoms of intellectual disability, based on Whole Exome Sequencing (WES). | NI-NGS | 3800.00 | up to 14 weeks |
| Kabuki syndrome | Kabuki syndrome NGS analysis of the entire coding sequence of the KMT2D and KDM6A genes. | KABUKI-NGS | 2100.00 | up to 8 weeks |
| Krabbe Disease | Krabbe Disease Identification of the IVS10del30kb deletion (exons 11-17) in the GALC gene, the most frequent pathogenic allele responsible for the early onset Krabbe disease. | GALC-1 | 390.00 | up to 3 weeks |
| Krabbe Disease NGS analysis of the GALC gene. | GALC-NGS | 2100.00 | up to 8 weeks | |
| Leukodystrophy | Leukodystrophy Metachromatic leukodystrophy. NGS analysis of the coding sequences of the ARSA and PSAP genes responsible for MLD symptoms. | MLD-NGS | 2100.00 | up to 8 weeks |
| Leukodystrophy Adult leukodystrophies. Screening analysis of the coding sequence of genes associated with clinical manifestations of leukodystrophies, based on Whole Exome Sequencing (WES). | WMD2-NGS | 3800.00 | up to 14 weeks | |
| Leukodystrophy Childhood leukodystrophies. Screening analysis of the coding sequence of genes associated with clinical manifestations of leukodystrophies, based on Whole Exome Sequencing (WES). | WMD-NGS | 3800.00 | up to 14 weeks | |
| Mitochondrial Diseases | Mitochondrial Diseases NGS analysis of the mitochondrial genome | mtDNA-NGS | 1200.00 | up to 8 weeks |
| Mitochondropathies Screening analysis of the coding sequence of nuclear genes, associated with clinical manifestations of mitochondropathy, as well as mitochondrial genome analysis, based on Whole Exome Sequencing (WES). | MIT-NGS | 3800.00 | up to 14 weeks | |
| Muscular Dystrophy | Muscular Dystrophy Limb-Girdle Muscular Dystrophy type 2A (LGMD2A). Identification of the most frequent: c.550delA i p.Arg490Gln and other mutations in exons 4 i 11 of the CAPN3 gene | CAPN3-1 | 550.00 | up to 3 weeks |
| DMD/BMD Muscular Dystrophy Duchenne/Becker muscular dystrophy (DMD/BMD). Identification of large deletions/duplications in the DMD gene using MLPA method 1 | DMD-MLPA | 990.00 | up to 6 weeks | |
| DMD/BMD Muscular Dystrophy Duchenne/Becker muscular dystrophy (DMD/BMD). NGS analysis of DMD gene. | DMD-NGS | 1600.00 | up to 14 weeks | |
| Muscular Dystrophy Limb-Girdle Muscular Dystrophy (LGMD). NGS analysis of 7 genes related to LGMD1 (type 1A-G)and 15 genes related to LGMD2 (type 2A-G, I, K-O, Q and S) | LGMD-NGS | 3800.00 | up to 14 weeks | |
| Muscular Dystrophy Limb-Girdle Muscular Dystrophy type 2A (LGMD2A). NGS analysis of the CAPN3 gene. | CAPN3-NGS | 1600.00 | up to 14 weeks | |
| Muscular Dystrophy Most common congenital muscular dystrophies. NGS analysis of the entire coding sequence of the ANO5, CAPN3, DMD, DYSF, FKRP, SGCA, SGCB and SGCG genes, responsible for the most common types of limb-girdle dystrophies and dystrophinopathies (Duchenne/Becker dystrophy) | NMD-SNGS | 1750.00 | up to 14 weeks | |
| Muscular Dystrophy Most common congenital muscular dystrophies. NGS analysis of the entire coding sequence of the LMNA, SELENON, COL6A1, COL6A2 and COL6A3 genes responsible for the most common types of congenital dystrophies (i.e. when disease symptoms are present from birth). | NMDW-SNGS | 1700.00 | up to 14 weeks | |
| Myopathy | Myopathy congenital NGS analysis of the entire coding sequence of the RYR1, DNM2 and NEB genes, responsible for the most common congenital myopathies. | MIOP-SNGS | 1700.00 | up to 14 weeks |
| Myopathy Most common metabolic myopathies. NGS analysis of the entire coding sequence of the PYGM and CPT2 genes responsible for the most common types of metabolic myopathies: glycogen storage disease type V (muscle glycogen phosphorylase deficiency) and carnitine palmitoyltransferase II deficiency. | MIOPM-SNGS | 1700.00 | up to 14 weeks | |
| Myotonia | Myotonic dystrophy Myotonic dystrophy (DM) - single type. Screening either for DM1 (CTG repeat expansion in the DMPK gene) or for DM2 (expansion of complex repeat motifs (TG)n(TCTG)n(CCTG)n in the CNBP gene)1. | DM-POJ | 850.00 | up to 10 weeks |
| Myotonia Most common myotonies. NGS analysis of the entire coding sequence of the CLCN1 and SCN4A genes responsible for the most common types of non-dystrophic myotonies. | ZMIO-SNGS | 1700.00 | up to 14 weeks | |
| Myotonic dystrophy Myotonic Dystrophy. Screening for the CTG repeat expansion in the DMPK gene and complex repeat motif(TG)n(TCTG)n(CCTG)n expansion in the CNBP gene 1 | DM1-DM2 | 1150.00 | up to 10 weeks | |
| Neurodegeneration with brain iron accumulation (NBIA) | Neurodegeneration with brain iron accumulation (NBIA) NGS analysis of PPANK2, WDR45, PLA2G6, C19orf12, FTL and CP genes | NBIA-NGS | 2500.00 | up to 8 weeks |
| Neurofibromatosis | Neurofibromatosis Neurofibromatosis type I (von Recklinghausen`s Disease). Identification of large deletions and insertions in the NF1 gene using MLPA method | NF1-MLPA | 990.00 | up to 6 weeks |
| Neurofibromatosis Neurofibromatosis type I, II and Legius syndrome. NGS analysis of NF1, NF2 and SPRED1 genes. | NF-NGS | 1900.00 | up to 8 weeks | |
| Neurofibromatosis type II Neurofibromatosis type II. Identification of large deletions and duplications in the NF2 gene using the MLPA method 1 | NF2-MLPA | 990.00 | up to 8 weeks | |
| Neuronal ceroid lipofuscinosis | Neuronal ceroid lipofuscinosis CLN2 disease, classic late infantile. Identification of the most frequent p.Arg208*, c.509-1G>C (IVS5-1G>C) and other mutations in exons 5 and 6 of the TPP1 gene | CLN2-1 | 360.00 | up to 3 weeks |
| Neuronal ceroid lipofuscinosis CLN3 disease, classic juvenile. Identification of the most frequent CLN3 deletion | CLN3-1 | 600.00 | up to 3 weeks | |
| Neuronal ceroid lipofuscinosis NGS analysis of the entire coding sequence of 13 genes: ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1 and TPP1, associated with clinical symptoms of neuronal ceroid lipofuscinosis. | CLN-NGS | 3000.00 | up to 8 weeks | |
| Oculopharyngeal Muscular Dystrophy | Oculopharyngeal Muscular Dystrophy Screening for the (GCN)n expansion in the exon 1 of the PABPN1 gene | PABPN1-1 | 490.00 | up to 4 weeks |
| Parkinson disease | Parkinson disease Analysis of the coding sequence of over 20 genes associated with the disease symptoms, including PRKN and PARK7, based on Whole Exome Sequencing (WES). | PARK-NGS | 3800.00 | up to 14 weeks |
| Pompe disease | Pompe disease NGS analysis of the coding region of the GAA gene | GAA-NGS | 2100.00 | up to 8 weeks |
| Prader-Willi Syndrome | Prader-Willi Syndrome Analysis of methylation pattern and deletions in the 15q11-q13 region1 | PWS-1 | 800.00 | up to 8 weeks |
| Refsum Disease | Refsum Disease Screening NGS analysis of PEX7 and PHYH genes. | REFS-NGS | 2100.00 | up to 8 weeks |
| Rett Syndrome | Rett Syndrome Sequence analysis of the entire coding region of the MECP2 gene | RETT-1 | 600.00 | up to 3 weeks |
| Rett Syndrome Screening NGS analysis of the MECP2, CDKL5, FOXG1 and UBE3A genes. | RETT-NGS | 2500.00 | up to 8 weeks | |
| Rett Syndrome Analysis of large deletions/duplications in the MECP2 gene using the MLPA method 1 | RETT-MLPA | 990.00 | up to 8 weeks | |
| Rubinstein-Taybi Syndrome | Rubinstein-Taybi Syndrome Analysis of large deletions/duplications in the CREBBP gene using the MLPA method 1 | RSTS-MLPA | 990.00 | do uzgodnienia |
| Segawa syndrome | Segawa syndrome NGS analysis of GCH1 (GTPCH1) gene. | DRD-NGS | 2100.00 | up to 8 weeks |
| Smith-Lemli-Opitz Syndrome | Smith-Lemli-Opitz Syndrome Identification of p.Trp151*, p.Val326Leu, p.Leu157Pro, p.Arg353Trp, IVS8-1G>C, p.Arg446Gln and other mutations in the exons 4,6 and 9 of the DHCR7 gene | SLOS-1 | 700.00 | up to 4 weeks |
| Sotos syndrome | Sotos syndrome NGS analysis of analysis of the NSD1 gene. | NSD1-NGS | 2100.00 | up to 8 weeks |
| Spinal Muscular Atrophy | Spinal Muscular Atrophy Identification of the exon 7 and 8 deletion in the SMN1 gene - carrier testing and SMN1/SMN2 copy number assessment. | SMA-2 | 710.00 | up to 6 weeks |
| Spinal Muscular Atrophy Sequence analysis of the coding region of the SMN1 gene 1 | SMA-3 | 930.00 | up to 8 weeks | |
| Spinal and bulbar muscular atrophy (Kennedy's Disease) | Spinal and bulbar muscular atrophy (Kennedy`s Disease) Identification of the number of CAG repeats in exon 1 of the AR gene | SBMA-1 | 400.00 | up to 3 weeks |
| Tuberous sclerosis | Tuberous sclerosis Screening NGS analysis of TSC1 and TSC2 genes. | TSC-NGS | 2100.00 | up to 8 weeks |
| ONCOLOGY | ||||
| Bloom Syndrome | Bloom Syndrome NGS analysis of the BLM gene. | BLM-NGS | 2100.00 | up to 8 weeks |
| CHEK2-related breast/ prostate/ colon/thyroidy familial cancer | CHEK2-related breast/ prostate/ colon/thyroidy familial cancer Identification of 4 most frequent mutations for the Polish population: c.1100delC (1100delC), p.Ile157Thr (I157T) and c.444+1G>A (IVS2+1G>A) and large exon 10-11 deletion (del5395), as well as other mutations occurring in exons 4, 5 and 12 of the CHEK2 gene | CHEK2-1 | 520.00 | up to 4 weeks |
| Diffuse Gastric Cancer | Diffuse Gastric Cancer NGS analysis of the entire coding sequence of the CDH1 gene. | CDH-NGS | 2100.00 | up to 8 weeks |
| Familial Medullary Thyroid Carcinoma (FMTC) | Familial Medullary Thyroid Carcinoma (FMTC) Sequence analysis of exons 10, 11, 13, 14, 15, and 16 of the RET gene | RET-1 | 975.00 | up to 4 weeks |
| Hereditary breast/ovarian cancer | Hereditary breast/ovarian cancer Sequence analysis of selected BRCA1 gene exons (2, 5, 20 and a fragment of 11) in order to identify the most frequent and founder mutations in the Polish population (c.5266dupC (5382insC), p.Cys61Gly (C61G, 300T>G), c.3700_3704del (3819del5), c.68_69delAG (185delAG), p.Arg1751* (C5370T), c.3756_3759delGTCT (3875del4), c.4035delA (4153delA), c.3779delT (3896delT)) | BRCA1-1 | 600.00 | up to 3 weeks |
| Hereditary breast/ovarian cancer Analysis of large deletions/duplications in the BRCA1 or BRCA2 genes using MLPA 1 | BRCA-MLPA | 900.00 | up to 8 weeks | |
| Inherited polyposes | Inherited polyposes Familial Adenomatous Polyposis (FAP). Identification of the 4 most frequent mutations in the APC gene: c.3927_3931delAAAGA, c.3183_3187delACAAA, c.3202_3205delTCAA, p.Tyr500* and other mutations in exon 14 and analysed fragment of exon 18 of the APC gene | APC-1 | 600.00 | up to 4 weeks |
| Inherited polyposes Adenomatous polyposis (FAP, MAP, juvenile). Screening NGS analysis of APC, MUTYH, BMPR1A and SMAD4 genes | POLYP-NGS | 2500.00 | up to 8 weeks | |
| Li-Fraumeni Syndrome | Li-Fraumeni Syndrome Sequence analysis of the TP53 gene | TP53-NGS | 2100.00 | up to 8 weeks |
| Lynch syndrome, hereditary non-polyposis colorectal cancer (HNPCC) | Lynch syndrome, hereditary non-polyposis colorectal cancer (HNPCC) NGS analysis of MLH1, MSH2, MLH3, MSH6 and PMS2 genes sequence and EPCAM gene deletion | HNPCC-NGS | 2500.00 | up to 8 weeks |
| Multiple Endocrine Neoplasia | Multiple Endocrine Neoplasia Multiple endocrine neoplasia type 2 (MEN2A and MEN2B). Sequence analysis of exons 10, 11, 13, 14, 15, and 16 of of the RET gene | MEN-1 | 975.00 | up to 4 weeks |
| Multiple Endocrine Neoplasia Multiple endocrine neoplasia type 1. Sequence analysis of the coding region of the MEN1 gene | MEN-2 | 1980.00 | up to 8 weeks | |
| Multiple Endocrine Neoplasia Multiple endocrine neoplasia type 1 (MEN1) i type 2 (MEN2A and MEN2B). NGS analysis of MEN1 and RET genes. | MEN-NGS | 2100.00 | up to 8 weeks | |
| Multiple osteochondromas | Multiple osteochondromas Sequence analysis of the coding region of the EXT1 and EXT2 genes | MO-NGS | 2100.00 | up to 8 weeks |
| Neurofibromatosis | Neurofibromatosis Neurofibromatosis type I (von Recklinghausen`s Disease). Identification of large deletions and insertions in the NF1 gene using MLPA method | NF1-MLPA | 990.00 | up to 6 weeks |
| Neurofibromatosis Neurofibromatosis type I, II and Legius syndrome. NGS analysis of NF1, NF2 and SPRED1 genes. | NF-NGS | 1900.00 | up to 8 weeks | |
| Neurofibromatosis type II Neurofibromatosis type II. Identification of large deletions and duplications in the NF2 gene using the MLPA method 1 | NF2-MLPA | 990.00 | up to 8 weeks | |
| Nijmegen breakage syndrome | Nijmegen breakage syndrome Identification of the most frequent c.657_661del5 mutation and other mutations in the exon 6 of the NBN gene | NBS-1 | 400.00 | up to 4 weeks |
| Peutz-Jeghers syndrome | Peutz-Jeghers syndrome Screening NGS analysis of the STK11 gene. | STK11-NGS | 2100.00 | up to 8 weeks |
| Retinoblastoma | Retinoblastoma Screening NGS analysis of the RB1 gene. | RB1-NGS | 2100.00 | up to 8 weeks |
| Retinoblastoma Analysis of large deletions/duplications in the RB1 gene using MLPA | RB1-MLPA | 990.00 | up to 8 weeks | |
| Screening NGS panel for hereditary cancers | Screening NGS panel for hereditary cancers Hereditary pheochromocytomas (paragangliomas/pheochromocytomas). NGS analysis of the coding sequence of KIF1B, MAX, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127 and VHL genes. | PHEO-NGS | 2500.00 | up to 8 weeks |
| Screening NGS panel for hereditary cancers Hereditary pancreatic cancer. NGS analysis of the entire coding sequence of the BRCA1, BRCA2, APC, CDKN2A, TP53, STK11, MLH1, MSH2, BMPR1A, SMAD4, PALB2 and ATM genes. | PANC-NGS | 2600.00 | up to 8 weeks | |
| Screening NGS panel for hereditary cancers Hereditary lung cancer. NGS analysis of the coding sequences of the TP53, EGFR, CDKN2A i BRCA2 genes. | LUNG-NGS | 2500.00 | up to 8 weeks | |
| Screening NGS panel for hereditary cancers Hereditary endometrial cancer. NGS analysis of the entire coding sequence of the TP53, PTEN, STK11, MLH1, MSH2, MSH6, EPCAM and PMS2 genes. | ENDO-NGS | 2500.00 | up to 8 weeks | |
| Screening NGS panel for hereditary cancers Hereditary kidney cancer. NGS analysis of the entire coding sequence of the FH, FHIT, VHL, FLCN, MET, MITF, TSC1, TSC2, PTEN, BAP1, SDHB, SDHC, SDHD, MLH1, MSH2, MSH6, EPCAM and PMS2 genes. | RENA-NGS | 2600.00 | up to 8 weeks | |
| Hereditary ovarian cancer NGS sequence analysis of the entire coding sequence of BRCA1, BRCA2, TP53, STK11, PALB2, BARD1, BRIP1, RAD51C, RAD51D, MLH1, MSH2, MSH6, EPCAM and PMS2 genes. | OVA-NGS | 2300.00 | up to 8 weeks | |
| Screening NGS panel for hereditary cancers Schwannomatosis. NGS analysis of sekwencji kodującej genów LZTR1, SMARCB1 i NF2 genes. | SCHW-NGS | 2500.00 | up to 8 weeks | |
| Screening NGS panel for hereditary cancers Hereditary haematopoietic neoplasms (leukaemias). NGS analysis of the entire coding sequence of 26 genes: ATM, BLM, BRAF, BRCA1, BRCA2, CBL, CDKN2A, CEBPA, DDX41, FANCA, GATA2, HRAS, KRAS, MAP2K1, MAP2K2, MLH1, MSH2, MSH6, NBN, NF1, NRAS, PMS2, PTPN11, RIT1, SOS1, TERT and TP53. | LEUK-NGS | 3000.00 | up to 8 weeks | |
| Hereditary breast cancer NGS analysis of the entire coding sequence of ATM, BRCA1, BRCA2, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11 and TP53 genes, together with the ATRIP c.1152_1155del p.(Gly385Ter) risk variant. | BREAST-NGS | 2300.00 | up to 8 weeks | |
| Screening NGS panel for hereditary cancers For patients with a familial history of cancer. NGS analysis of the entire coding sequence of 90 genes, whose pathogenic variants correlate with an increased risk of cancer. | ONKO-MAX | 2800.00 | up to 8 weeks | |
| Hereditary breast/ovarian cancer For HBOC families. NGS analysis of the entire coding sequence of the ATM, BRCA1, BRCA2, BARD1, BRIP1, CHEK2, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11 and TP53 genes together with the ATRIP c.1152_1155del p.(Gly385Ter) risk variant. | FEM-NGS | 2500.00 | up to 8 weeks | |
| Hereditary breast/ovarian cancer For patients affected with breast/ovarian/prostate cancer to drive terapeutic decisions. NGS analysis of the entire coding sequence of the BRCA1, BRCA2, CHEK2 and PALB2 genes. | BRCA-NGS | 2100.00 | up to 8 weeks | |
| Melanoma Screening NGS analysis of the entire coding sequence of the BRCA1, BRCA2, BAP1, CDKN2A, CDK4, MC1R, MITF, POT1, PTCH1, TP53, PTEN, SUFU, TERT genes for a predisposition to the development of skin cancers, including melanoma | CZER-NGS | 2500.00 | up to 8 weeks | |
| von Hippel-Lindau Syndrome (Familial Cerebelloretinal Angiomatosis) | von Hippel-Lindau Syndrome (Familial Cerebelloretinal Angiomatosis) Sequence analysis of the coding region of the VHL gene | VHL-1 | 650.00 | up to 3 weeks |
| von Hippel-Lindau Syndrome (Familial Cerebelloretinal Angiomatosis) Analysis of large deletions/duplications in the VHL gene using MLPA 1 | VHL-MLPA | 990.00 | up to 8 weeks | |
| OPHTHALMOLOGY | ||||
| Age-related Macular Degeneration (AMD) | AMD risk assessment Sequencing of selected variants in 30 genes (using NGS), including the identification of known SNPs increasing the risk of AMD: the p.Tyr402His variant (rs1061170) in CFH and the p.Ala69Ser varinat (rs10490924) in ARMS2. | AMD-PRS | 600.00 | up to 6 weeks |
| Alagille syndrome | Alagille syndrome NGS analysis of JAG1 and NOTCH2 genes | ALGS-NGS | 2100.00 | up to 8 weeks |
| Alport syndrome | Alport syndrome NGS analysis of COL4A3, COL4A4 and COL4A5 genes. | AS-NGS | 2500.00 | up to 8 weeks |
| Corneal dystrophy | Corneal dystrophy Corneal dystrophy. NGS analysis of 14 genes: AGBL1, CHST6, COL8A2, DCN, GRHL2, KRT12, KRT3, OVOL2, SLC4A11, TACSTD2, TGFBI, UBIAD1, VSX1 i ZEB1. | CORNEA-NGS | 2500.00 | up to 8 weeks |
| Developmental anomalies affecting the eye | Developmental anomalies affecting the eye Developmental anomalies affecting the eye. NGS analysis of 78 genes: AASS, ABCB6, ADAMTS10, ADAMTS17, ADAMTSL4, ALDH1A3, ASPH, ATOH7, BCOR, B3GLCT, BMP4, CAPN5, CHD7, CBS, COL2A1, COL4A1, COL8A2, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, COL18A1, CPAMD8, CYP1B1, EYA1, FBN1, FGFR1, FOXC1, FOXE3, FREM1, FZD4, GDF3, GDF6, HCCS, HESX1, HMGB3, HMX1, JAG1, KCNJ13, KIF11, LRP5, LTBP2, MAB21L2, MFRP, NDP, NOTCH2, OTX2, P3H2, PAX2, PAX6, PIGL, PITX2, PITX3, PORCN, PROKR2, PRSS56, PXDN, RARB, RAX, RBP4, SHH, SIX6, SLC38A8, SMOC1, SOX2, SOX3, STRA6, SUOX, TEK,TENM3, TMEM98, TSPAN12, VAX1, VCAN, VSX1, VSX2, ZNF408. | OKUM-NGS | 2600.00 | up to 8 weeks |
| Homocystinuria | Homocystinuria NGS analysis of the entire coding sequence of the CBS gene | CBS-NGS | 2100.00 | up to 8 weeks |
| Marfan Syndrome | Marfan Syndrome NGS analysis of the FBN1 gene. | FBN1-NGS | 2100.00 | up to 8 weeks |
| Mitochondrial Diseases | Mitochondrial Diseases NGS analysis of the mitochondrial genome | mtDNA-NGS | 1200.00 | up to 8 weeks |
| Mitochondropathies Screening analysis of the coding sequence of nuclear genes, associated with clinical manifestations of mitochondropathy, as well as mitochondrial genome analysis, based on Whole Exome Sequencing (WES). | MIT-NGS | 3800.00 | up to 14 weeks | |
| NGS analysis of 24 genes related to albinism and hypopigmentation | NGS analysis of 24 genes related to albinism and hypopigmentation NGS analysis of 30 genes related to albinism and hypopigmentation: AP3B1, AP3D1, BLOC1S3, BLOC1S5, BLOC1S6, CACNA1F, DTNBP1, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LRMDA, LYST, MC1R, MITF, OCA2, PAX3, RAB27A, SLC24A5, SLC45A2, TYR, TYRP1 | OCA-NGS | 2500.00 | up to 8 weeks |
| Optic atrophy | Optic atrophy Optic atrophy. NGS analysis of 30 genes: ACO2, AFG3L2, ANTXR1, ATP1A3, C12orf65, CISD2, DNAJC30, DNM1L, FDXR, MCAT, MFF, MFN2, MIEF1, NBAS, NDUFS4, NR2F1, OPA1, OPA3, PDXK, PRPS1, RTN4IP1, SDHA, SLC25A46, SPG7, SSBP1, TIMM8A, TMEM126A, WFS1, YME1L1, ZNHIT | OKUA-NGS | 2400.00 | up to 8 weeks |
| Refsum Disease | Refsum Disease Screening NGS analysis of PEX7 and PHYH genes. | REFS-NGS | 2100.00 | up to 8 weeks |
| Retinal dystrophy | Retinal dystrophy Inherited Retinal Dystrophy (IRD), including retinitis pigmentosa (RP), Leber congenital amaurosis (LCA) and syndromic retinal dystrophies.
NGS analysis of almost 400 IRD-related genes (such as RPE65), including known pathogenic intronic variants and CNV analysis.
NEW! Starting from January 2025, gene therapy for patients aged 4 to 35 years with Leber congenital blindness, caused by biallelic mutations of the RPE65 gene, is reimbursed in Poland.
Quality assessment for IRD (EMQN certificate) | OKU-NGS | 3200.00 | up to 12 weeks |
| Stargardt Disease Type I Stargardt Disease. NGS sequence and CNV analysis of the ABCA4 gene. | STARG-NGS | 2100.00 | up to 8 weeks | |
| Sticler syndrome | Sticler syndrome Hereditary progressive arthro-ophthalmopathy. NGS analysis of the entire coding sequence of the COL2A1, COL11A1, COL11A2, COL9A1, COL9A2 and COL9A3 genes. | STS-NGS | 2500.00 | up to 8 weeks |
| ORTHOPAEDICS | ||||
| Achondroplasia | Achondroplasia Identification of the p.Gly380Arg mutation and other mutations in exon 10 fragment of the FGFR3 gene | ACH-1 | 330.00 | up to 3 weeks |
| Alagille syndrome | Alagille syndrome NGS analysis of JAG1 and NOTCH2 genes | ALGS-NGS | 2100.00 | up to 8 weeks |
| Alport syndrome | Alport syndrome NGS analysis of COL4A3, COL4A4 and COL4A5 genes. | AS-NGS | 2500.00 | up to 8 weeks |
| Apert Syndrome | Apert Syndrome Identification of p.Ser252Trp, p.Pro253Arg, c.755_756delCGinsTT and other mutations in exon 8 of the FGFR2 gene | APS-1 | 420.00 | up to 3 weeks |
| Artrogrypoza | Arthrogryposis Screening NGS analysis of genes responsible for clinical symptoms of arthrogryposis, based on Whole Exome Sequencing (WES). | ARTG-NGS | 3800.00 | up to 14 weeks |
| Beckwith-Wiedemann Syndrome | Beckwith-Wiedemann Syndrome Analysis of the methylation pattern and identification of deletions/duplications in the 11p15 locus using MS-MLPA 1 | BWS-MLPA | 990.00 | up to 8 weeks |
| Coffin-Lowry Syndrome | Coffin-Lowry Syndrome NGS analysis of the entire coding sequence of the RPS6KA3 gen. | CLS-NGS | 2100.00 | up to 8 weeks |
| Cornelai de Lange Syndrome | Cornelai de Lange Syndrome NGS analysis of the entire coding sequence of the HDAC8, NIPBL, RAD21, SMC1A and SMC3 genes. | CDLS-NGS | 2500.00 | up to 8 weeks |
| Craniosynostosis | Craniosynostosis Screening NGS analysis of 74 genes, responsible for clinical symptoms of craniosynostosis, for prenatal and postnatal testing | CRANIO-NGS | 3000.00 | up to 8 weeks |
| Crouzon Syndrome | Crouzon Syndrome Sequence analysis of exons 8 and 10 of the FGFR2 gene | CROUZ-1 | 660.00 | up to 3 weeks |
| Ehlers-Danlos syndrome | Ehlers-Danlos syndrome NGS analysis of ADAMTS2, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, FKBP14, PLOD1, PRDM5, SLC39A13 and ZNF469 genes (according to the International EDS Classification 2017). | EDS-NGS | 2500.00 | up to 8 weeks |
| Ehlers-Danlos syndrome Ehlersa-Danlos Syndrome typ VI - identification of large deletions and duplications in the PLOD1 gene using MLPA 1 | EDS6-MLPA | 900.00 | up to 8 weeks | |
| Ehlers-Danlos syndrome Heritable connective tissue disorders. NGS analysis of 60 genes, responsible for clinical symptoms of Ehlers-Danlos syndrome. | EDS3-NGS | 3000.00 | up to 8 weeks | |
| Hereditary hypophosphatemic rickets | Hereditary hypophosphatemic rickets Phypophosphatemic rickets (various types). NGS analysis of the entire coding sequence of 16 genes: ALPL, ANKH, AP2S1, CASR, CLCN5, CYP27B1, CYP2R1, DMP1, ENPP1, FAH, FGF23, PHEX, SLC34A1, SLC34A3, SLC9A3R1, VDR, associated with disease symptoms . | PHEX-NGS | 3000.00 | up to 8 weeks |
| Homocystinuria | Homocystinuria NGS analysis of the entire coding sequence of the CBS gene | CBS-NGS | 2100.00 | up to 8 weeks |
| Hypochondroplasia | Hypochondroplasia Identification of the common p.Asn540Lys mutation and other mutations in the exon 13 of the FGFR3 gene | HYPOCH-1 | 450.00 | up to 3 weeks |
| Klippel-Feil syndrome | Klippel-Feil syndrome NGS analysis of GDF6, GDF3 and MEOX1 genes. | KFS-NGS | 2500.00 | up to 8 weeks |
| Marfan Syndrome | Marfan Syndrome NGS analysis of the FBN1 gene. | FBN1-NGS | 2100.00 | up to 8 weeks |
| McCune-Albright syndrome | McCune-Albright syndrome Identification of the p.Arg201His, p.Arg201Cys, p.Gln227Leu and other variants in exons 7-9 of the GNAS gene in the affected tissue | GNAS-1 | 450.00 | up to 3 weeks |
| Muenke Syndrome | Muenke Syndrome Identification of the p.Pro250Arg mutation in the exon 7 of the FGFR3 gene | MUE-1 | 400.00 | up to 3 weeks |
| Multiple osteochondromas | Multiple osteochondromas Sequence analysis of the coding region of the EXT1 and EXT2 genes | MO-NGS | 2100.00 | up to 8 weeks |
| Osteogenesis Imperfecta | Osteogenesis Imperfecta NGS analysis of the entire coding sequence of the COL1A1 and COL1A2 genes. | OI-NGS | 2100.00 | up to 8 weeks |
| Pfeiffer Syndrome | Pfeiffer Syndrome Identification of the most frequent p.Pro252Arg mutation in exon 7 of the FGFR1 gene | PFE-1 | 400.00 | up to 3 weeks |
| Rubinstein-Taybi Syndrome | Rubinstein-Taybi Syndrome Analysis of large deletions/duplications in the CREBBP gene using the MLPA method 1 | RSTS-MLPA | 990.00 | do uzgodnienia |
| Silver-Russell Syndrome | Silver-Russell Syndrome Analysis of the methylation pattern and identification of deletions/duplications in the 11p15 locus using MS-MLPA 1 | SRS1-MLPA | 990.00 | up to 8 weeks |
| Skeletal dysplasias | Skeletal dysplasias Ellisa-van Creveld Syndrome (EVCS). Analysis of the entire coding sequences of the EVC and EVC2 genes. | EVCS-NGS | 2100.00 | up to 8 weeks |
| Skeletal dysplasias Treacher-Collins Syndrome (TCS). Analysis of the entire coding sequence of the DHODH, EFTUD2, POLR1B, POLR1C, POLR1D, SF3B4 and TCOF1 genes. | TCS-NGS | 2500.00 | up to 8 weeks | |
| Skeletal dysplasias Sensenbrenner syndrome/Cranioectodermal dysplasia (CED). Analysis of the entire coding sequence of the IFT122, IFT140, IFT43, IFT52, WDR19, WDR35 genes. | CED-NGS | 2500.00 | up to 8 weeks | |
| Skeletal dysplasias Most common skeletal dysplasias with limb shortening in the prenatal period. Analysis of the entire coding sequence of the ALPL, COL1A1, COL1A2, COL2A1, FGFR3, SLC26A2, SOX9, TRIP11 genes. | AHG-NGS | 2500.00 | up to 6 weeks | |
| Skeletal dysplasias Frontal-nasal dysplasia (FND). NGS analysis of the entire coding sequence of the ALX1, ALX3 and ALX4 genes. | FND-NGS | 2500.00 | up to 8 weeks | |
| Skeletal dysplasias Microcephaly. Screening NGS analysis of genes responsible for clinical symptoms of the disease, based on Whole Exome Sequencing (WES). | MICF-NGS | 3800.00 | up to 14 weeks | |
| Skeletal dysplasias Short stature/growth deficiency. Screening NGS analysis of genes responsible for clinical symptoms, based on Whole Exome Sequencing (WES). | NWS-NGS | 3800.00 | up to 14 weeks | |
| Skeletal dysplasias Screening NGS analysis of the coding sequence of genes associated with clinical manifestations of skeletal dysplasias according to the 2019 Nosology Committee of the International Skeletal Dysplasia Society classification, based on Whole Exome Sequencing (WES). | OCHD-NGS | 3800.00 | up to 14 weeks | |
| Sticler syndrome | Sticler syndrome Hereditary progressive arthro-ophthalmopathy. NGS analysis of the entire coding sequence of the COL2A1, COL11A1, COL11A2, COL9A1, COL9A2 and COL9A3 genes. | STS-NGS | 2500.00 | up to 8 weeks |
| Thanatophoric dysplasia type I | Thanatophoric dysplasia type I Identification of the most frequent mutations: p.Arg248Cys, p.Tyr373Cys and other mutations in exons 7 and 10 of the FGFR3 gene | DTAN-1 | 660.00 | up to 3 weeks |
| OTHER | ||||
| Additional services | Additional services Carrier testing for autosomal dominant disorders. Identification of a familial genetic variant previously found in frame of NGS testing performed at the Genomed Laboratory. | INNE-7 | 350.00 | to be agreed |
| Additional services Any marker or mutation from the GENOMED offer, except MLPA | INNE-1 | 350.00 | to be agreed | |
| Additional services Analysis of a mutation/amplicon not included in the standard offer. This testing can ONLY be ordered with the approval of the laboratory (diagnostyka@genomed.pl) | INNE-4 | 650.00 | to be agreed | |
| Additional services Biobanking (up to 5 years). | INNE-5 | 100.00 | to be agreed | |
| Additional services Carrier testing for autosomal recessive disorders. . Identification of a genetic variant previously found in frame of NGS testing performed at the Genomed Laboratory. | INNE-6 | 600.00 | to be agreed | |
| Additional services NGS analysis of the entire coding sequence of any gene from the Genomed panel offer (excluding WES-based panels). This testing can ONLY be ordered with the approval of the laboratory (diagnostyka@genomed.pl) | INNE-NGS | 1800.00 | to be agreed | |
| Sickle cell disease Sickle cell anaemia. Screening for AA, AS and SS genotypes - identification of the HBB gene most common pathogenic variant responsible for HbS. | HBB-1 | 400.00 | up to 3 weeks | |
| ACE I/D polymorphism Analysis of the ACE I/D genetic polymorphism. | ACE-1 | 390.00 | up to 3 weeks | |
| CCR5 genotyping - prognosis of susceptibility to HIV infection | CCR5 genotyping - prognosis of susceptibility to HIV infection Identification of the c.554_585del32 variant in the CCR5 gene | CCR5-1 | 400.00 | up to 3 weeks |
| Fanconi anemia | Fanconi anemia NGS analysis of the entire coding sequence of BLM, BRCA1, BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, PALB2, SLX4 genes. | FA-NGS | 2500.00 | up to 8 weeks |
| Lymphocyte Karyotype | Lymphocyte Karyotype Analysis of quantitative and qualitative chromosome aberrations using classical cytogenetic methods 1 3 | KAR-1 | 590.00 | up to 5 weeks |
| Lymphocyte Karyotype Analysis of quantitative and qualitative chromosome aberrations using classical cytogenetic methods for both parents 1 3 | KAR-2 | 550.00 | up to 5 weeks | |
| Molecular karyotype (array CGH) | Molecular karyotype (array CGH) Identification of genome dosage imbalances (aneuploidies, deletions, duplications, unbalanced translocations) with array CGH method 1 | aCGH-1 | 1950.00 | up to 6 weeks |
| Molecular karyotype (array CGH) Autism - identification of genome dosage imbalances at the loci linked to clinical symptoms of the disorder using the array CGH method 1 | aCGH-2 | 2750.00 | up to 6 weeks | |
| Newborn screening | INFANO Test NGS screening for infants and little children, covering more than 70 genetic conditions for which prevention or treatment options are available. Testing includes metabolic diseases, peadiatric cancers, cardiac arrhythmias and other disorders, such as malignant hyperthermia, Leber congenital amaurosis (RPE65 gene). | INFANO | 2400.00 | up to 8 weeks |
| Sex Determination | Sex Determination Analysis of genetic markers specific to the AMGX, AMGY and SRY genes | SRY-1 | 300.00 | up to 3 weeks |
| Sex determination of miscarriage material | Sex determination of miscarriage material Analysis of tissue from the miscarriage using genetic markers specific to the AMGX, AMGY and SRY genes | MPXY-1 | 400.00 | up to 3 weeks |
| PHARMACOGENETICS | ||||
| Candersartan, Irbesartan, Losartan, Warfarin - activity of the CYP2C9 | Candersartan, Irbesartan, Losartan, Warfarin - activity of the P450 2C9 cytochrome Identification of the CYP2C9*2 and *3 variants | CYP2C9-1 | 660.00 | up to 4 weeks |
| Carvedilol, Codeine, Metoprolol, Propranolol and Timolol - activity of the CYP2D6 | Carvedilol, Codeine, Metoprolol, Propranolol and Timolol - activity of the P450 2D6 cytochrome Identification of the CYP2D6*4 and *3 variants | CYP2D6-1 | 660.00 | up to 4 weeks |
| Carvedilol, Codeine, Metoprolol, Propranolol and Timolol - assessment of the CYP2D6 activity Copy number assessment of the CYP2D6 gene by MLPA | CYP2D6-MLPA | 1120.00 | up to 6 weeks | |
| Clopidogrel - analysis of the cytochrome CYP2C19 activity | Clopidogrel - assessment of the P450 2C19 cytochrome activity Identification of CYP2C19*2, *3, *6 and *17 haplotypes. | CYP2C19-1 | 660.00 | up to 4 weeks |
| Malignant hyperthermia | Malignant Hyperthermia NGS analysis of the entire coding region of the RYR1, CACNA1S and STAC3 genes. | MHI-NGS | 2500.00 | up to 8 weeks |
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Attention!!! It is possible to modify the diagnostic panel depending on the patient’s individual needs. In such cases, please call or contact us via email. There is also a possibility of working out a diagnostic set for any given congenital disease depending on the customer’s requirements. |
| 1 Tests performed in a certified laboratory cooperating with the Genomed Healthcare Center |
| 2 Testing performed on paraffin-embedded (FFPE) tissue blocks |
| 3 Tests carried out using blood previously collected into a heparin containing tube |
| 4 Tests carried out using saliva (Norgen kit) |
| 5 Tests performed using a dried blood spot (blood spot kit) |
| 6 Tests performed using DNA isolated from full venous blood |
| 7 Testing performed on trophoblast sample |
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Gene symbols and names according to the HUGO Gene Nomenclature Committee (HGNC). Variant nomenclature according to the Human Genome Variation Society (HGVS) v.19.01. Exons are numbered according to the HGMD reference sequence and the full human genome (hg38). Variant interpretation according to the American College of Medical Genetics and Genomics (ACMG). Pathogenic variants found by NGS are confirmed by Sanger sequencing. |
| Genomed S.A., ul. Ponczowa 12, 02-971 Warszawa, Poland, Company registered by the District Court for the city of Warszawa in Warszawa,13th Commercial Division, National Court Register No. 0000374741 . Share capital PLN 132 130.10, VAT No. PL7010083563, National /Business Registry Number/ 141108082 |