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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 |
Jednostka chorobowa | Opis badania | Kod badania |
Koszt badania [PLN] |
Termin realizacji |
---|---|---|---|---|
AUDIOLOGY | ||||
Alport syndrome | Zespół Alporta NGS analysis of COL4A3, COL4A4 and COL4A5 genes. | AS-NGS | 2500.00 | do 8 tygodni |
Deafness and Hereditary Hearing Loss | Niedosłuch wrodzony 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 | do 3 tygodni |
Niedosłuch wrodzony NGS analysis of over 60 genes (custom panel) | DFN-NGS | 3800.00 | do 14 tygodni | |
Niedosłuch wrodzony 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 | do 3 tygodni | |
Niedosłuch wrodzony Deletion/duplication analysis of the GJB2, GJB3, GJB6, WFS1 and POU3F4 genes | GJB2-MLPA | 990.00 | do 6 tygodni | |
CARDIOLOGY | ||||
Alagille syndrome | Zespół Alagille`a NGS analysis of JAG1 and NOTCH2 genes | ALGS-NGS | 2100.00 | do 8 tygodni |
Candersartan, Irbesartan, Losartan, Warfarin - activity of the CYP2C9 | Ocena aktywności cytochromu P450 2C9 Identification of the CYP2C9*2 and *3 variants | CYP2C9-1 | 660.00 | do 4 tygodni |
Cardiomyopathy (hypertrophic and dilated) | Kardiomiopatia (przerostowa i rozstrzeniowa) 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 | do 8 tygodni |
Kardiomiopatia (przerostowa i rozstrzeniowa) 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 | do 14 tygodni | |
Carvedilol, Codeine, Metoprolol, Propranolol and Timolol - activity of the CYP2D6 | Ocena aktywności cytochromu P450 2D6 Identification of the CYP2D6*4 and *3 variants | CYP2D6-1 | 660.00 | do 4 tygodni |
Ocena aktywności cytochromu P450 2D6 Copy number assessment of the CYP2D6 gene by MLPA | CYP2D6-MLPA | 1120.00 | do 6 tygodni | |
Cerebral small vessel disease (CSVD) | Choroby małych naczyń mózgowych (CSVD) NGS analysis of 7 genes related to CSVD: NOTCH3, COL4A1, COL4A2, GLA, HTRA1, APP and TREX1 | CSVD-NGS | 2500.00 | do 8 tygodni |
Clopidogrel - analysis of the cytochrome CYP2C19 activity | Ocena aktywności cytochromu P450 2C19 Identification of CYP2C19*2, *3, *6 and *17 haplotypes. | CYP2C19-1 | 660.00 | do 4 tygodni |
Congenital thrombophilia | Trombofilia wrodzona (nadkrzepliwość) 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 | do 3 tygodni |
Costello Syndrome | Zespół Costello 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 | do 3 tygodni |
Ehlers-Danlos syndrome | Zespół Ehlersa-Danlosa 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 | do 8 tygodni |
Zespół Ehlersa-Danlosa Ehlersa-Danlos Syndrome typ VI - identification of large deletions and duplications in the PLOD1 gene using MLPA 1 | EDS6-MLPA | 900.00 | do 8 tygodni | |
Zespół Ehlersa-Danlosa Heritable connective tissue disorders. NGS analysis of 60 genes, responsible for clinical symptoms of Ehlers-Danlos syndrome. | EDS3-NGS | 3000.00 | do 8 tygodni | |
Hypercholesterolemia | Hipercholesterolemia NGS analysis of LDLR, APOB, PCSK9 and LDLRAP1 genes. | FHP-NGS | 1900.00 | do 8 tygodni |
Kabuki syndrome | Zespół Kabuki NGS analysis of the entire coding sequence of the KMT2D and KDM6A genes. | KABUKI-NGS | 2100.00 | do 8 tygodni |
Long QT syndrome | Zespół wydłużonego QT Long QT Syndrome types 1-3 (LQTS 1-3). NGS analysis of KCNQ1, KCNH2 and SCN5A genes. | LQT-NGS | 2500.00 | do 8 tygodni |
Marfan Syndrome | Zespół Marfana NGS analysis of the FBN1 gene. | FBN1-NGS | 2100.00 | do 8 tygodni |
Rasopathies | RASopatie 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 | do 8 tygodni |
Thoracic Aortic Aneurysms and Aortic Dissections (TAAD) | Tętniaki i rozwarstwienia aorty piersiowej (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 | do 8 tygodni |
CYSTIC FIBROSIS | ||||
Cystic Fibrosis (CF) | Mukowiscydoza (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 | do 3 tygodni |
Mukowiscydoza (CF) Targeted mutation analysis in the CFTR gene - carrier testing for a mutation of choice. | CF-0 | 330.00 | do 3 tygodni | |
Mukowiscydoza (CF) NGS analysis of the CFTR gene. | CF-NGS | 2200.00 | do 8 tygodni | |
DERMATOLOGY | ||||
Ectodermal dysplasia | Dysplazja ektodermalna WES | EDA-NGS | 3800.00 | do 14 tygodni |
Genodermatoses | Genodermatozy Screening NGS analysis of genes responsible for clinical symptoms of genodermatoses (inherited skin diseases), based on Whole Exome Sequencing (WES). | GDM-NGS | 3800.00 | do 14 tygodni |
Job Syndrome (Hyper-IgE Syndrome) | Zespół Hioba (zespół hiper-IgE) Screening NGS analysis of the DOCK8, SPINK5, STAT3, RAG1, RAG2, DCLRE1C genes. | HIGE-NGS | 2400.00 | do 8 tygodni |
McCune-Albright syndrome | Zespół McCune-Albright 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 | do 3 tygodni |
Netherton Syndrome | Zespół Nethertona Screening NGS analysis of the SPINK5 gene. | SPINK5-NGS | 2100.00 | do 8 tygodni |
Neurofibromatosis | Neurofibromatoza Neurofibromatosis type I (von Recklinghausen`s Disease). Identification of large deletions and insertions in the NF1 gene using MLPA method | NF1-MLPA | 990.00 | do 6 tygodni |
Neurofibromatoza Neurofibromatosis type I, II and Legius syndrome. NGS analysis of NF1, NF2 and SPRED1 genes. | NF-NGS | 1900.00 | do 8 tygodni | |
Neurofibromatoza typu II Neurofibromatosis type II. Identification of large deletions and duplications in the NF2 gene using the MLPA method 1 | NF2-MLPA | 990.00 | do 8 tygodni | |
Porphyria | Porfiria Sequence analysis of the coding region of the PPOX, CPOX, HMBS and ALAD genes | PRF-NGS | 2500.00 | do 8 tygodni |
Łuszczyca, łuszczycowe zapalenie stawów | Zesztywniające zapalenie stawów kręgosłupa (Zzsk) Determination of the HLA-B27 allele presence 1 | HLA-2 | 380.00 | do 4 tygodni |
Łuszczyca, łuszczycowe zapalenie stawów Determination of the presence of the HLA-C*06 allele 1 | HLA-1 | 380.00 | do 4 tygodni | |
ENDOCRINOLOGIC DISEASES | ||||
ANDROGEN INSENSITIVITY SYNDROME | Zespół niewrażliwości na androgeny Sequence analysis of the coding region of the androgen receptor (AR) gene, together with a genetic sex determination | AR-SNGS | 1700.00 | do 14 tygodni |
Congenital Adrenal Hyperplasia | Wrodzony przerost kory nadnerczy 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 | do 6 tygodni |
Disorder of sex development | Zaburzenia różnicowania płci 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 | do 14 tygodni |
Hypogonadism, hypogonadotropic | Hipogonadyzm hipogonadotropowy 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 | do 14 tygodni |
Pseudohypoparathyroidism, Albright syndrome | Rzekoma niedoczynność przytarczyc, zespół Albrighta 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 | do 6 tygodni |
Rzekoma niedoczynność przytarczyc, zespół Albrighta Type Ia and Ic. NGS analysis of the coding sequence of the GNAS gene. | PHP-NGS | 2100.00 | do 8 tygodni | |
Thyroid Hormone Resistance | Niewrażliwość na hormony tarczycy Sequence analysis of exons 7-10 of the THRB gene | THRB-1 | 730.00 | do 3 tygodni |
GASTROENTEROLOGY | ||||
Alpha1-Antitrypsin Deficiency | Deficyt alfa1-antytrypsyny Identification of the p.Glu288Val (S allele, E264V) and p.Glu366Lys (Z allele, E342K) mutations in the SERPINA1 gene | AAT-1 | 550.00 | do 3 tygodni |
Deficyt alfa1-antytrypsyny Sequence analysis of the coding region of the SERPINA1 gene | AAT-3 | 750.00 | do 4 tygodni | |
Coeliac disease | Celiakia Identification of the HLA-DQ2 and DQ8 haplotypes1 | CELIAKIA-1 | 400.00 | do 4 tygodni |
Crigler-Najjar Syndrome | Zespół Criglera-Najjara Sequence analysis of the coding region and the fragment of promoter region of the UGT1A1 gene | CRIG-1 | 1200.00 | do 4 tygodni |
Diffuse Gastric Cancer | Nowotwór żołądka - postać rozlana NGS analysis of the entire coding sequence of the CDH1 gene. | CDH-NGS | 2100.00 | do 8 tygodni |
Fructosemia | Fruktozemia Identification of the p.Ala150Pro and p.Ala175Asp mutations and other located in the exon 5 of the ALDOB gene | ALDOB-1 | 450.00 | do 3 tygodni |
Gilbert Syndrome | Zespół Gilberta Analysis of the number of (TA)n repeats in the UGT1A1 gene promoter | UGT-1 | 370.00 | do 3 tygodni |
Haemochromatosis | Hemochromatoza 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 | do 3 tygodni |
Hemochromatoza NGS analysis of HFE, HJV, HAMP, TFR2,BMP6 and SLC40A1 genes. | HFE-NGS | 2500.00 | do 8 tygodni | |
Inherited polyposes | Dziedziczna polipowatość jelita grubego 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 | do 4 tygodni |
Dziedziczna polipowatość jelita grubego Adenomatous polyposis (FAP, MAP, juvenile). Screening NGS analysis of APC, MUTYH, BMPR1A and SMAD4 genes | POLYP-NGS | 2500.00 | do 8 tygodni | |
Lynch syndrome, hereditary non-polyposis colorectal cancer (HNPCC) | Zespół Lyncha, dziedziczny rak jelita grubego niezwiązany z polipowatością (HNPCC) NGS analysis of MLH1, MSH2, MLH3, MSH6 and PMS2 genes sequence and EPCAM gene deletion | HNPCC-NGS | 2500.00 | do 8 tygodni |
Pancreatitis (acute and chronic) | Zapalenie trzustki (ostre i przewlekłe) 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 | do 4 tygodni |
Zapalenie trzustki (ostre i przewlekłe) NGS analysis of the coding sequence of disease-related genes: PRSS1, SPINK1, CFTR, CTRC, CASR and CPA1 | ZT-NGS | 2500.00 | do 8 tygodni | |
Polycystic kidney disease | Wielotorbielowatość nerek 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 | do 8 tygodni |
Porphyria | Porfiria Sequence analysis of the coding region of the PPOX, CPOX, HMBS and ALAD genes | PRF-NGS | 2500.00 | do 8 tygodni |
GENOMIC RESEARCH | ||||
Artrogrypoza | Artrogrypoza Screening NGS analysis of genes responsible for clinical symptoms of arthrogryposis, based on Whole Exome Sequencing (WES). | ARTG-NGS | 3800.00 | do 14 tygodni |
Clinical exome | Diagnostyczna analiza eksomu 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 | do 14 tygodni |
Diagnostyczna analiza eksomu Re-analysis of the whole exome sequencing data obtained using the EXOME-1 test (WES) | EXOME-2 | 1300.00 | do uzgodnienia | |
Diagnostyczna analiza eksomu 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 | do 14 tygodni | |
Diagnostyczna analiza eksomu 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 | do 14 tygodni | |
Clinical genome | Diagnostyczna analiza genomu 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 | do 14 tygodni |
Diagnostyczna analiza genomu Re-analysis of the whole genome sequencing data obtained using the GENOM-1 test (WGS) | GENOM-2 | 1300.00 | do uzgodnienia | |
Congenital immunodeficiencies | Wrodzone niedobory odporności/deficyty immunologiczne 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 | do 14 tygodni |
Wrodzone niedobory odporności/deficyty immunologiczne 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 | do 8 tygodni | |
Genodermatoses | Genodermatozy Screening NGS analysis of genes responsible for clinical symptoms of genodermatoses (inherited skin diseases), based on Whole Exome Sequencing (WES). | GDM-NGS | 3800.00 | do 14 tygodni |
Hereditary Sensory and Motor Neuropathies | Dziedziczna neuropatia czuciowa i ruchowa CMT1X. Analysis of the coding sequence of the GJB1 gene | CMT1X-1 | 400.00 | do 8 tygodni |
Dziedziczna neuropatia czuciowa i ruchowa 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 | do 6 tygodni | |
Dziedziczna neuropatia czuciowa i ruchowa 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 | do 14 tygodni | |
Dziedziczna neuropatia czuciowa i ruchowa 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 | do 14 tygodni | |
Hypogonadism, hypogonadotropic | Hipogonadyzm hipogonadotropowy 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 | do 14 tygodni |
Inborn metabolic disorders | Wrodzone zaburzenia metabolizmu NGS analysis of the coding sequences of over 600 genes, performed on a basis of Whole Exome Sequencing (WES). | IMD-NGS | 3800.00 | do 14 tygodni |
Wrodzone zaburzenia metabolizmu 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 | do 8 tygodni | |
Intellectual disability | Niepełnosprawność intelektualna 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 | do 14 tygodni |
Leukodystrophy | Leukodystrofia Metachromatic leukodystrophy. NGS analysis of the coding sequences of the ARSA and PSAP genes responsible for MLD symptoms. | MLD-NGS | 2100.00 | do 8 tygodni |
Leukodystrofia 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 | do 14 tygodni | |
Leukodystrofia 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 | do 14 tygodni | |
Malignant hyperthermia | Hipertermia złośliwa NGS analysis of the entire coding region of the RYR1, CACNA1S and STAC3 genes. | MHI-NGS | 2500.00 | do 8 tygodni |
Mitochondrial Diseases | Genom mitochondrialny NGS analysis of the mitochondrial genome | mtDNA-NGS | 1200.00 | do 8 tygodni |
Mitochondropatie 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 | do 14 tygodni | |
Myopathy | Miopatia wrodzona 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 | do 14 tygodni |
Miopatia 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 | do 14 tygodni | |
Myotonia | Dystrofia miotoniczna 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 | do 10 tygodni |
Miotonia 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 | do 14 tygodni | |
Dystrofia miotoniczna 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 | do 10 tygodni | |
Neuromuscular diseases | Choroby nerwowo-mięśniowe 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 | do 14 tygodni |
Mitochondropatie 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 | do 14 tygodni | |
Newborn screening | Badanie INFANO 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 | do 8 tygodni |
Parkinson disease | Choroba Parkinsona/dystonia 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 | do 14 tygodni |
Prophylactic Whole Genome Analysis | GENOM Błękitny Whole Genome Sequencing (WGS). Preventive genome analysis using Next Generation Sequencing, including a diagnostic analysis and report. | GENOM-BLUE | 9000.00 | do 14 tygodni |
GENOM Złoty Whole Genome Sequencing (WGS). Preventive genome analysis using Next Generation Sequencing, including a diagnostic analysis and comprehensive report.
| GENOM-Z | 9900.00 | do 16 tygodni | |
GENOM Srebrny 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 | do 11 tygodni | |
GYNECOLOGY and INFERTILITY | ||||
ANDROGEN INSENSITIVITY SYNDROME | Zespół niewrażliwości na androgeny Sequence analysis of the coding region of the androgen receptor (AR) gene, together with a genetic sex determination | AR-SNGS | 1700.00 | do 14 tygodni |
Congenital Adrenal Hyperplasia | Wrodzony przerost kory nadnerczy 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 | do 6 tygodni |
Disorder of sex development | Zaburzenia różnicowania płci 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 | do 14 tygodni |
Hypogonadism, hypogonadotropic | Hipogonadyzm hipogonadotropowy 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 | do 14 tygodni |
Infertility | Niepłodność 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 | do 3 tygodni |
Niepłodność Analysis of microdeletions in the AZF region of the Y chromosome (analysis of 6 loci) | NP-2 | 420.00 | do 3 tygodni | |
Niepłodność 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 | do 5 tygodni | |
Lymphocyte Karyotype | Badanie kariotypu w limfocytach krwi obwodowej Analysis of quantitative and qualitative chromosome aberrations using classical cytogenetic methods 1 3 | KAR-1 | 590.00 | do 5 tygodni |
Badanie kariotypu w limfocytach krwi obwodowej Analysis of quantitative and qualitative chromosome aberrations using classical cytogenetic methods for both parents 1 3 | KAR-2 | 550.00 | do 5 tygodni | |
Molecular karyotype (array CGH) | Kariotyp molekularny (hybrydyzacja do macierzy CGH) Identification of genome dosage imbalances (aneuploidies, deletions, duplications, unbalanced translocations) with array CGH method 1 | aCGH-1 | 1950.00 | do 6 tygodni |
Kariotyp molekularny (hybrydyzacja do macierzy 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 | do 6 tygodni | |
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 | do 12 tygodni |
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 | do 12 tygodni | |
ParentoPARENTO OPTIMUM - for an invidual
| PARENOPT-1 | 3900.00 | do 8 tygodni | |
ParentoPARENTO OPTIMUM - for a couple
Price per person - the test must be ordered for each person in the couple. | PARENOPT-2 | 3400.00 | do 8 tygodni | |
Premature Ovarian Failure | Przedwczesne wygasanie czynności jajników Identification of the normal number of (CGG) triplets in the 5’UTR of the FMR1 gene - screening test | POF-1 | 400.00 | do 5 tygodni |
Przedwczesne wygasanie czynności jajników 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 | do 14 tygodni | |
Recurrent Pregnancy Loss | Nawracające poronienia 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 | do 3 tygodni |
Nawracające poronienia Badanie aneuploidii chromosomowych w materiale z poronienia - ocena liczby poszczególnych chromosomów 1 | POR-3 | 990.00 | do 5 tygodni | |
Nawracające poronienia Identyfication of the M2 haplotype in the promotor region of the ANXA5 gene. | POR-4 | 395.00 | do 3 tygodni | |
Nawracające poronienia | aCGH-3 | 1720.00 | do 6 tygodni | |
Sex Determination | Identyfikacja płci genetycznej Analysis of genetic markers specific to the AMGX, AMGY and SRY genes | SRY-1 | 300.00 | do 3 tygodni |
Sex determination of miscarriage material | Identyfikacja płci genetycznej materiału poronnego. Badanie do celów prawnych. Analysis of tissue from the miscarriage using genetic markers specific to the AMGX, AMGY and SRY genes | MPXY-1 | 400.00 | do 3 tygodni |
METABOLIC DISEASES | ||||
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY | Deficyt palmitoilotransferazy karnitynowej typu II Identification of the p.Ser113Leu mutation in the CPT2 gene | CPT2-1 | 450.00 | do 4 tygodni |
Cystinosis | Cystynoza Identification of the homozygous 57kb deletion in the CTNS gene - verification of the clinical diagnosis of the disease | CTNS-1 | 600.00 | do 3 tygodni |
Diabetes | Cukrzyca 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 | do 8 tygodni |
Cukrzyca 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 | do 8 tygodni | |
Fabry disease | Choroba FABRY`ego Sequence analysis of the whole coding region of the GLA gene | GLA-3 | 1320.00 | do 6 tygodni |
Galactosemia | Galaktozemia 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 | do 3 tygodni |
Gaucher`s Disease | Choroba Gauchera 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 | do 3 tygodni |
Hemolytic anemia | Niedokrwistość hemolityczna Haemolytic anaemia/glucose-6-phosphate dehydrogenase deficiency. NGS analysis of the entire coding sequence of the G6PD gene. | G6PD-NGS | 2100.00 | do 8 tygodni |
Hereditary hypophosphatemic rickets | Krzywica fosfatemiczna 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 | do 8 tygodni |
Inborn metabolic disorders | Wrodzone zaburzenia metabolizmu NGS analysis of the coding sequences of over 600 genes, performed on a basis of Whole Exome Sequencing (WES). | IMD-NGS | 3800.00 | do 14 tygodni |
Wrodzone zaburzenia metabolizmu 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 | do 8 tygodni | |
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency | Deficyt dehydrogenazy długołańcuchowych kwasów tłuszczowych (LCHAD) Identification of the p.Glu510Gln mutation in the HADHA gene, frequent in Polish patients with LCHAD deficiency | LCHAD-1 | 450.00 | do 3 tygodni |
McCune-Albright syndrome | Zespół McCune-Albright 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 | do 3 tygodni |
Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) | Deficyt dehydrogenazy acylo-CoA średnołańcuchowych kwasów tłuszczowych (MCAD) Identification of the most frequent mutation p.Lys329Glu (K304E) and other mutations in the exon 11 of the ACADM gene | MCAD-1 | 450.00 | do 3 tygodni |
Mitochondrial Diseases | Genom mitochondrialny NGS analysis of the mitochondrial genome | mtDNA-NGS | 1200.00 | do 8 tygodni |
Mitochondropatie 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 | do 14 tygodni | |
Mucopolysaccharidosis | Mukopolisacharydoza 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 | do 8 tygodni |
Neuronal ceroid lipofuscinosis | Ceroidolipofuscynoza 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 | do 3 tygodni |
Ceroidolipofuscynoza CLN3 disease, classic juvenile. Identification of the most frequent CLN3 deletion | CLN3-1 | 600.00 | do 3 tygodni | |
Ceroidolipofuscynoza 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 | do 8 tygodni | |
Newborn screening | Badanie INFANO 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 | do 8 tygodni |
Nonketotic Hyperglycinemia | Nieketotyczna hiperglicynemia Sequence analysis of the coding region of the GLDC, AMT, GCSH genes | NHG-NGS | 2500.00 | do 8 tygodni |
Phenylketonuria | Fenyloketonuria 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 | do 3 tygodni |
Pompe disease | Choroba Pompego NGS analysis of the coding region of the GAA gene | GAA-NGS | 2100.00 | do 8 tygodni |
Smith-Lemli-Opitz Syndrome | Zespół Smith-Lemli-Opitz 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 | do 4 tygodni |
Surfactant deficiency | Niedobór surfaktantu Screening NGS analysis of SFTPB, SFTPC and ABCA3 genes | SURF-NGS | 2500.00 | do 8 tygodni |
Trimethylaminuria (Fish Odor Syndrome) | Trimetyloaminuria (zespół odoru rybnego) Sequence analysis of the coding region of the FMO3 gene (NGS) | FMO3-NGS | 2100.00 | do 8 tygodni |
NEUROLOGY | ||||
Aceruloplasminemia | Aceruloplazminemia NGS analysis of the CP gene | CP-NGS | 2100.00 | do 8 tygodni |
Adrenoleucodystrophy | Adrenoleukodystrofia Adrenoleukodystrophy. Sequence analysis of the coding region of the ABCD1 gene | ALD-1 | 1900.00 | do 6 tygodni |
Alexander Disease | Choroba Aleksandra Analiza sekwencji kodującej genu GFAP z wykorzystaniem metod sekwencjonowania nowej generacji | ALXD-NGS | 2100.00 | do 8 tygodni |
Alzheimer Disease | Choroba Alzheimera 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 | do 8 tygodni |
Amyotrophic lateral sclerosis (ALS) | Stwardnienie zanikowe boczne (SLA/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 | do 8 tygodni |
Stwardnienie zanikowe boczne (SLA/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 | do 4 tygodni | |
Stwardnienie zanikowe boczne (SLA/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 | do 8 tygodni | |
Angelman Syndrome | Zespół Angelmana Sequence analysis of exons 7-16 of the UBE3A gene - supplementary to the ANGEL-1 test | ANGEL-2 | 1200.00 | do 8 tygodni |
Zespół Angelmana Analysis of a methylation pattern and deletions in the 15q11-q13 region (MLPA) | ANGEL-1 | 800.00 | do 8 tygodni | |
Ataxia | Ataksja First-tier testing for spinal cerebellar ataxia (SCA), including SCA1, SCA2 i SCA3 1 | SCA-1 | 1450.00 | do uzgodnienia |
Ataksja 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 | do 14 tygodni | |
Ataksja 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 | do 14 tygodni | |
Zespół CANVAS Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome. Identification of biallelic RFC1 (AAGGG) repeat expansion. | CANVAS | 1550.00 | do 12 tygodni | |
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy - CADASIL | Mózgowa arteriopatia z podkorowymi zawałami i leukoencefalopatią - CADASIL NGS analysis of the NOTCH3 gene. | NOTCH3-NGS | 2100.00 | do 8 tygodni |
Cerebral small vessel disease (CSVD) | Choroby małych naczyń mózgowych (CSVD) NGS analysis of 7 genes related to CSVD: NOTCH3, COL4A1, COL4A2, GLA, HTRA1, APP and TREX1 | CSVD-NGS | 2500.00 | do 8 tygodni |
Congenital central hypoventilation syndrome, CCHS | Wrodzona ośrodkowa hipowentylacja (Klątwa Ondyny) Sequence analysis of the coding region of the PHOX2B gene | PHOX2B-1 | 1050.00 | do 4 tygodni |
Epilepsy | Padaczka napadów nieświadomości Childhood absence epilepsy (CAE). NGS analysis of 6 genes related to CAE: GABRG2, GABRA1, SLC2A1, JRK, GABRB3 and CACNA1H | CAE-NGS | 2500.00 | do 8 tygodni |
Zespół Dravet 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 | do 8 tygodni | |
Panel genowy - padaczka, epilepsja 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 | do 14 tygodni | |
Postępująca padaczka miokloniczna 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 | do 8 tygodni | |
Fragile X Syndrome | Zespół łamliwego chromosomu X Analysis of premutation and dynamic mutation in the FMR1 gene - supplementary to FRAX-3 test 1 | FRAX-2 | 990.00 | do 10 tygodni |
Zespół łamliwego chromosomu X Identification of the normal number of (CGG) triplets in the FMR1 gene - a screening test | FRAX-3 | 400.00 | do 5 tygodni | |
Frontotemporal dementia (FTD) | Otępienie czołowo-skroniowe (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 | do 8 tygodni |
Genodermatoses | Genodermatozy Screening NGS analysis of genes responsible for clinical symptoms of genodermatoses (inherited skin diseases), based on Whole Exome Sequencing (WES). | GDM-NGS | 3800.00 | do 14 tygodni |
Hereditary Sensory and Motor Neuropathies | Dziedziczna neuropatia czuciowa i ruchowa CMT1X. Analysis of the coding sequence of the GJB1 gene | CMT1X-1 | 400.00 | do 8 tygodni |
Dziedziczna neuropatia czuciowa i ruchowa 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 | do 6 tygodni | |
Dziedziczna neuropatia czuciowa i ruchowa 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 | do 14 tygodni | |
Dziedziczna neuropatia czuciowa i ruchowa 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 | do 14 tygodni | |
Hereditary spastic paraplegia (HSP) | Dziedziczna paraplegia spastyczna (HSP) Identification of large deletions i duplications in the SPAST and ATL1 genes using MLPA method | SPG4-MLPA | 990.00 | do 6 tygodni |
Dziedziczna paraplegia spastyczna (HSP) NGS screening of SPAST, ATL1, KIF5A, REEP1, CYP7B1, SPG11 and KIF1A genes | SPG-NGS1 | 2500.00 | do 8 tygodni | |
Dziedziczna paraplegia spastyczna (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 | do 14 tygodni | |
Dziedziczna paraplegia spastyczna (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 | do 14 tygodni | |
Dziedziczna paraplegia spastyczna (HSP) Identification of large deletions and duplications in the SPG7 and REEP1 genes using the MLPA method | SPG7-MLPA | 990.00 | do 8 tygodni | |
Homocystinuria | Homocystynuria NGS analysis of the entire coding sequence of the CBS gene | CBS-NGS | 2100.00 | do 8 tygodni |
Intellectual disability | Niepełnosprawność intelektualna 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 | do 14 tygodni |
Kabuki syndrome | Zespół Kabuki NGS analysis of the entire coding sequence of the KMT2D and KDM6A genes. | KABUKI-NGS | 2100.00 | do 8 tygodni |
Krabbe Disease | Choroba Krabbego 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 | do 3 tygodni |
Choroba Krabbego NGS analysis of the GALC gene. | GALC-NGS | 2100.00 | do 8 tygodni | |
Leukodystrophy | Leukodystrofia Metachromatic leukodystrophy. NGS analysis of the coding sequences of the ARSA and PSAP genes responsible for MLD symptoms. | MLD-NGS | 2100.00 | do 8 tygodni |
Leukodystrofia 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 | do 14 tygodni | |
Leukodystrofia 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 | do 14 tygodni | |
Mitochondrial Diseases | Genom mitochondrialny NGS analysis of the mitochondrial genome | mtDNA-NGS | 1200.00 | do 8 tygodni |
Mitochondropatie 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 | do 14 tygodni | |
Muscular Dystrophy | Dystrofia mięśniowa 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 | do 3 tygodni |
Dystrofia mięśniowa Duchenne'a/Beckera (DMD/BMD) Duchenne/Becker muscular dystrophy (DMD/BMD). Identification of large deletions/duplications in the DMD gene using MLPA method 1 | DMD-MLPA | 990.00 | do 6 tygodni | |
Dystrofia mięśniowa Duchenne'a/Beckera (DMD/BMD) Duchenne/Becker muscular dystrophy (DMD/BMD). NGS analysis of DMD gene. | DMD-NGS | 1600.00 | do 14 tygodni | |
Dystrofia mięśniowa 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 | do 14 tygodni | |
Dystrofia mięśniowa Limb-Girdle Muscular Dystrophy type 2A (LGMD2A). NGS analysis of the CAPN3 gene. | CAPN3-NGS | 1600.00 | do 14 tygodni | |
Dystrofia mięśniowa 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 | do 14 tygodni | |
Dystrofia mięśniowa 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 | do 14 tygodni | |
Myopathy | Miopatia wrodzona 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 | do 14 tygodni |
Miopatia 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 | do 14 tygodni | |
Myotonia | Dystrofia miotoniczna 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 | do 10 tygodni |
Miotonia 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 | do 14 tygodni | |
Dystrofia miotoniczna 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 | do 10 tygodni | |
Neurodegeneration with brain iron accumulation (NBIA) | Neurodegeneracja z akumulacją żelaza (NBIA) NGS analysis of PPANK2, WDR45, PLA2G6, C19orf12, FTL and CP genes | NBIA-NGS | 2500.00 | do 8 tygodni |
Neurofibromatosis | Neurofibromatoza Neurofibromatosis type I (von Recklinghausen`s Disease). Identification of large deletions and insertions in the NF1 gene using MLPA method | NF1-MLPA | 990.00 | do 6 tygodni |
Neurofibromatoza Neurofibromatosis type I, II and Legius syndrome. NGS analysis of NF1, NF2 and SPRED1 genes. | NF-NGS | 1900.00 | do 8 tygodni | |
Neurofibromatoza typu II Neurofibromatosis type II. Identification of large deletions and duplications in the NF2 gene using the MLPA method 1 | NF2-MLPA | 990.00 | do 8 tygodni | |
Neuronal ceroid lipofuscinosis | Ceroidolipofuscynoza 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 | do 3 tygodni |
Ceroidolipofuscynoza CLN3 disease, classic juvenile. Identification of the most frequent CLN3 deletion | CLN3-1 | 600.00 | do 3 tygodni | |
Ceroidolipofuscynoza 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 | do 8 tygodni | |
Oculopharyngeal Muscular Dystrophy | Dystrofia oczno-gardłowa (OPMD) Screening for the (GCN)n expansion in the exon 1 of the PABPN1 gene | PABPN1-1 | 490.00 | do 4 tygodni |
Parkinson disease | Choroba Parkinsona/dystonia 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 | do 14 tygodni |
Pompe disease | Choroba Pompego NGS analysis of the coding region of the GAA gene | GAA-NGS | 2100.00 | do 8 tygodni |
Prader-Willi Syndrome | Zespół Prader-Willi Analysis of methylation pattern and deletions in the 15q11-q13 region1 | PWS-1 | 800.00 | do 8 tygodni |
Refsum Disease | Choroba Refsuma Screening NGS analysis of PEX7 and PHYH genes. | REFS-NGS | 2100.00 | do 8 tygodni |
Rett Syndrome | Zespół Retta Sequence analysis of the entire coding region of the MECP2 gene | RETT-1 | 600.00 | do 3 tygodni |
Zespół Retta Screening NGS analysis of the MECP2, CDKL5, FOXG1 and UBE3A genes. | RETT-NGS | 2500.00 | do 8 tygodni | |
Zespół Retta Analysis of large deletions/duplications in the MECP2 gene using the MLPA method 1 | RETT-MLPA | 990.00 | do 8 tygodni | |
Rubinstein-Taybi Syndrome | Zespół Rubinsteina-Taybiego Analysis of large deletions/duplications in the CREBBP gene using the MLPA method 1 | RSTS-MLPA | 990.00 | do uzgodnienia |
Segawa syndrome | Dystonia wrażliwa na dopaminę, zespół Segawy NGS analysis of GCH1 (GTPCH1) gene. | DRD-NGS | 2100.00 | do 8 tygodni |
Smith-Lemli-Opitz Syndrome | Zespół Smith-Lemli-Opitz 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 | do 4 tygodni |
Sotos syndrome | Zespół Sotosa NGS analysis of analysis of the NSD1 gene. | NSD1-NGS | 2100.00 | do 8 tygodni |
Spinal Muscular Atrophy | Rdzeniowy zanik mięśni Identification of the exon 7 and 8 deletion in the SMN1 gene - carrier testing and SMN1/SMN2 copy number assessment. | SMA-2 | 710.00 | do 6 tygodni |
Rdzeniowy zanik mięśni Sequence analysis of the coding region of the SMN1 gene 1 | SMA-3 | 930.00 | do 8 tygodni | |
Spinal and bulbar muscular atrophy (Kennedy's Disease) | Opuszkowo-rdzeniowy zanik mięśni (choroba Kennedy`ego) Identification of the number of CAG repeats in exon 1 of the AR gene | SBMA-1 | 400.00 | do 3 tygodni |
Tuberous sclerosis | Stwardnienie guzowate Screening NGS analysis of TSC1 and TSC2 genes. | TSC-NGS | 2100.00 | do 8 tygodni |
ONCOLOGY | ||||
Bloom Syndrome | Zespół Blooma NGS analysis of the BLM gene. | BLM-NGS | 2100.00 | do 8 tygodni |
CHEK2-related breast/ prostate/ colon/thyroidy familial cancer | Rak piersi/jajnika/prostaty/jelita grubego/tarczycy dziedziczny - badanie mutacji genu CHEK2 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 | do 4 tygodni |
Diffuse Gastric Cancer | Nowotwór żołądka - postać rozlana NGS analysis of the entire coding sequence of the CDH1 gene. | CDH-NGS | 2100.00 | do 8 tygodni |
Familial Medullary Thyroid Carcinoma (FMTC) | Rak rdzeniasty tarczycy, postać rodzinna Sequence analysis of exons 10, 11, 13, 14, 15, and 16 of the RET gene | RET-1 | 975.00 | do 4 tygodni |
Hereditary breast/ovarian cancer | Rak piersi/jajnika dziedziczny 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 | do 3 tygodni |
Rak piersi/jajnika dziedziczny Analysis of large deletions/duplications in the BRCA1 or BRCA2 genes using MLPA 1 | BRCA-MLPA | 900.00 | do 8 tygodni | |
Inherited polyposes | Dziedziczna polipowatość jelita grubego 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 | do 4 tygodni |
Dziedziczna polipowatość jelita grubego Adenomatous polyposis (FAP, MAP, juvenile). Screening NGS analysis of APC, MUTYH, BMPR1A and SMAD4 genes | POLYP-NGS | 2500.00 | do 8 tygodni | |
Li-Fraumeni Syndrome | Zespół Li-Fraumeni Sequence analysis of the TP53 gene | TP53-NGS | 2100.00 | do 8 tygodni |
Lynch syndrome, hereditary non-polyposis colorectal cancer (HNPCC) | Zespół Lyncha, dziedziczny rak jelita grubego niezwiązany z polipowatością (HNPCC) NGS analysis of MLH1, MSH2, MLH3, MSH6 and PMS2 genes sequence and EPCAM gene deletion | HNPCC-NGS | 2500.00 | do 8 tygodni |
Multiple Endocrine Neoplasia | Mnoga gruczolakowatość wewnątrzwydzielnicza 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 | do 4 tygodni |
Mnoga gruczolakowatość wewnątrzwydzielnicza Multiple endocrine neoplasia type 1. Sequence analysis of the coding region of the MEN1 gene | MEN-2 | 1980.00 | do 8 tygodni | |
Mnoga gruczolakowatość wewnątrzwydzielnicza Multiple endocrine neoplasia type 1 (MEN1) i type 2 (MEN2A and MEN2B). NGS analysis of MEN1 and RET genes. | MEN-NGS | 2100.00 | do 8 tygodni | |
Multiple osteochondromas | Mnogie kostniakorzęstniaki Sequence analysis of the coding region of the EXT1 and EXT2 genes | MO-NGS | 2100.00 | do 8 tygodni |
Neurofibromatosis | Neurofibromatoza Neurofibromatosis type I (von Recklinghausen`s Disease). Identification of large deletions and insertions in the NF1 gene using MLPA method | NF1-MLPA | 990.00 | do 6 tygodni |
Neurofibromatoza Neurofibromatosis type I, II and Legius syndrome. NGS analysis of NF1, NF2 and SPRED1 genes. | NF-NGS | 1900.00 | do 8 tygodni | |
Neurofibromatoza typu II Neurofibromatosis type II. Identification of large deletions and duplications in the NF2 gene using the MLPA method 1 | NF2-MLPA | 990.00 | do 8 tygodni | |
Nijmegen breakage syndrome | Zespół Nijmegen Identification of the most frequent c.657_661del5 mutation and other mutations in the exon 6 of the NBN gene | NBS-1 | 400.00 | do 4 tygodni |
Peutz-Jeghers syndrome | Zespół Peutz-Jeghersa Screening NGS analysis of the STK11 gene. | STK11-NGS | 2100.00 | do 8 tygodni |
Retinoblastoma | Siatkówczak (Retinoblastoma) Screening NGS analysis of the RB1 gene. | RB1-NGS | 2100.00 | do 8 tygodni |
Siatkówczak (Retinoblastoma) Analysis of large deletions/duplications in the RB1 gene using MLPA | RB1-MLPA | 990.00 | do 8 tygodni | |
Screening NGS panel for hereditary cancers | Pakiet badań przesiewowych w kierunku predyspozycji do nowotworów - panel NGS 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 | do 8 tygodni |
Pakiet badań przesiewowych w kierunku predyspozycji do nowotworów - panel NGS 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 | do 8 tygodni | |
Pakiet badań przesiewowych w kierunku predyspozycji do nowotworów - panel NGS Hereditary lung cancer. NGS analysis of the coding sequences of the TP53, EGFR, CDKN2A i BRCA2 genes. | LUNG-NGS | 2500.00 | do 8 tygodni | |
Pakiet badań przesiewowych w kierunku predyspozycji do nowotworów - panel NGS 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 | do 8 tygodni | |
Pakiet badań przesiewowych w kierunku predyspozycji do nowotworów - panel NGS 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 | do 8 tygodni | |
Dziedziczny rak jajnika 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 | do 8 tygodni | |
Pakiet badań przesiewowych w kierunku predyspozycji do nowotworów - panel NGS Schwannomatosis. NGS analysis of sekwencji kodującej genów LZTR1, SMARCB1 i NF2 genes. | SCHW-NGS | 2500.00 | do 8 tygodni | |
Pakiet badań przesiewowych w kierunku predyspozycji do nowotworów - panel NGS 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 | do 8 tygodni | |
Dziedziczny rak piersi 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 | do 8 tygodni | |
Pakiet badań przesiewowych w kierunku predyspozycji do nowotworów - panel NGS 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 | do 8 tygodni | |
Rak piersi/jajnika dziedziczny 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 | do 8 tygodni | |
Rak piersi/jajnika dziedziczny 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 | do 8 tygodni | |
Czerniak, postać rodzinna 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 | do 8 tygodni | |
von Hippel-Lindau Syndrome (Familial Cerebelloretinal Angiomatosis) | Zespół von Hippla-Lindaua (naczyniakowatość siatkówkowo-móżdżkowa) Sequence analysis of the coding region of the VHL gene | VHL-1 | 650.00 | do 3 tygodni |
Zespół von Hippla-Lindaua (naczyniakowatość siatkówkowo-móżdżkowa) Analysis of large deletions/duplications in the VHL gene using MLPA 1 | VHL-MLPA | 990.00 | do 8 tygodni | |
OPHTHALMOLOGY | ||||
Age-related Macular Degeneration (AMD) | AMD – ryzyko rozwoju choroby 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 | do 6 tygodni |
Alagille syndrome | Zespół Alagille`a NGS analysis of JAG1 and NOTCH2 genes | ALGS-NGS | 2100.00 | do 8 tygodni |
Alport syndrome | Zespół Alporta NGS analysis of COL4A3, COL4A4 and COL4A5 genes. | AS-NGS | 2500.00 | do 8 tygodni |
Corneal dystrophy | Dystrofia rogówki 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 | do 8 tygodni |
Developmental anomalies affecting the eye | Wady rozwojowe oczu 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 | do 8 tygodni |
Homocystinuria | Homocystynuria NGS analysis of the entire coding sequence of the CBS gene | CBS-NGS | 2100.00 | do 8 tygodni |
Marfan Syndrome | Zespół Marfana NGS analysis of the FBN1 gene. | FBN1-NGS | 2100.00 | do 8 tygodni |
Mitochondrial Diseases | Genom mitochondrialny NGS analysis of the mitochondrial genome | mtDNA-NGS | 1200.00 | do 8 tygodni |
Mitochondropatie 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 | do 14 tygodni | |
NGS analysis of 24 genes related to albinism and hypopigmentation | Albinizmy i hipopigmentacje 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 | do 8 tygodni |
Optic atrophy | Zanik nerwów wzrokowych 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 | do 8 tygodni |
Refsum Disease | Choroba Refsuma Screening NGS analysis of PEX7 and PHYH genes. | REFS-NGS | 2100.00 | do 8 tygodni |
Retinal dystrophy | Dziedziczna dystrofia siatkówki 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 | do 12 tygodni |
Choroba Stargardta Type I Stargardt Disease. NGS sequence and CNV analysis of the ABCA4 gene. | STARG-NGS | 2100.00 | do 8 tygodni | |
Sticler syndrome | Zespół Sticklera 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 | do 8 tygodni |
ORTHOPAEDICS | ||||
Achondroplasia | Achondroplazja Identification of the p.Gly380Arg mutation and other mutations in exon 10 fragment of the FGFR3 gene | ACH-1 | 330.00 | do 3 tygodni |
Alagille syndrome | Zespół Alagille`a NGS analysis of JAG1 and NOTCH2 genes | ALGS-NGS | 2100.00 | do 8 tygodni |
Alport syndrome | Zespół Alporta NGS analysis of COL4A3, COL4A4 and COL4A5 genes. | AS-NGS | 2500.00 | do 8 tygodni |
Apert Syndrome | Zespół Aperta Identification of p.Ser252Trp, p.Pro253Arg, c.755_756delCGinsTT and other mutations in exon 8 of the FGFR2 gene | APS-1 | 420.00 | do 3 tygodni |
Artrogrypoza | Artrogrypoza Screening NGS analysis of genes responsible for clinical symptoms of arthrogryposis, based on Whole Exome Sequencing (WES). | ARTG-NGS | 3800.00 | do 14 tygodni |
Beckwith-Wiedemann Syndrome | Zespół Beckwitha-Wiedemanna Analysis of the methylation pattern and identification of deletions/duplications in the 11p15 locus using MS-MLPA 1 | BWS-MLPA | 990.00 | do 8 tygodni |
Coffin-Lowry Syndrome | Zespół Coffina-Lowry`ego (Coffin-Lowry) NGS analysis of the entire coding sequence of the RPS6KA3 gen. | CLS-NGS | 2100.00 | do 8 tygodni |
Cornelai de Lange Syndrome | Zespół Cornelii de Lange NGS analysis of the entire coding sequence of the HDAC8, NIPBL, RAD21, SMC1A and SMC3 genes. | CDLS-NGS | 2500.00 | do 8 tygodni |
Craniosynostosis | Kraniosynostoza Screening NGS analysis of 74 genes, responsible for clinical symptoms of craniosynostosis, for prenatal and postnatal testing | CRANIO-NGS | 3000.00 | do 8 tygodni |
Crouzon Syndrome | Zespół Crouzona Sequence analysis of exons 8 and 10 of the FGFR2 gene | CROUZ-1 | 660.00 | do 3 tygodni |
Ehlers-Danlos syndrome | Zespół Ehlersa-Danlosa 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 | do 8 tygodni |
Zespół Ehlersa-Danlosa Ehlersa-Danlos Syndrome typ VI - identification of large deletions and duplications in the PLOD1 gene using MLPA 1 | EDS6-MLPA | 900.00 | do 8 tygodni | |
Zespół Ehlersa-Danlosa Heritable connective tissue disorders. NGS analysis of 60 genes, responsible for clinical symptoms of Ehlers-Danlos syndrome. | EDS3-NGS | 3000.00 | do 8 tygodni | |
Hereditary hypophosphatemic rickets | Krzywica fosfatemiczna 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 | do 8 tygodni |
Homocystinuria | Homocystynuria NGS analysis of the entire coding sequence of the CBS gene | CBS-NGS | 2100.00 | do 8 tygodni |
Hypochondroplasia | Hypochondroplazja Identification of the common p.Asn540Lys mutation and other mutations in the exon 13 of the FGFR3 gene | HYPOCH-1 | 450.00 | do 3 tygodni |
Klippel-Feil syndrome | Zespół Klippel-Feila NGS analysis of GDF6, GDF3 and MEOX1 genes. | KFS-NGS | 2500.00 | do 8 tygodni |
Marfan Syndrome | Zespół Marfana NGS analysis of the FBN1 gene. | FBN1-NGS | 2100.00 | do 8 tygodni |
McCune-Albright syndrome | Zespół McCune-Albright 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 | do 3 tygodni |
Muenke Syndrome | Zespół Muenke Identification of the p.Pro250Arg mutation in the exon 7 of the FGFR3 gene | MUE-1 | 400.00 | do 3 tygodni |
Multiple osteochondromas | Mnogie kostniakorzęstniaki Sequence analysis of the coding region of the EXT1 and EXT2 genes | MO-NGS | 2100.00 | do 8 tygodni |
Osteogenesis Imperfecta | Wrodzona łamliwość kości/ Osteogenesis imperfecta NGS analysis of the entire coding sequence of the COL1A1 and COL1A2 genes. | OI-NGS | 2100.00 | do 8 tygodni |
Pfeiffer Syndrome | Zespół Pfeiffera Identification of the most frequent p.Pro252Arg mutation in exon 7 of the FGFR1 gene | PFE-1 | 400.00 | do 3 tygodni |
Rubinstein-Taybi Syndrome | Zespół Rubinsteina-Taybiego Analysis of large deletions/duplications in the CREBBP gene using the MLPA method 1 | RSTS-MLPA | 990.00 | do uzgodnienia |
Silver-Russell Syndrome | Zespół Silvera-Russella Analysis of the methylation pattern and identification of deletions/duplications in the 11p15 locus using MS-MLPA 1 | SRS1-MLPA | 990.00 | do 8 tygodni |
Skeletal dysplasias | Dysplazje szkieletowe Ellisa-van Creveld Syndrome (EVCS). Analysis of the entire coding sequences of the EVC and EVC2 genes. | EVCS-NGS | 2100.00 | do 8 tygodni |
Dysplazje szkieletowe 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 | do 8 tygodni | |
Dysplazje szkieletowe Sensenbrenner syndrome/Cranioectodermal dysplasia (CED). Analysis of the entire coding sequence of the IFT122, IFT140, IFT43, IFT52, WDR19, WDR35 genes. | CED-NGS | 2500.00 | do 8 tygodni | |
Dysplazje szkieletowe 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 | do 6 tygodni | |
Dysplazje szkieletowe Frontal-nasal dysplasia (FND). NGS analysis of the entire coding sequence of the ALX1, ALX3 and ALX4 genes. | FND-NGS | 2500.00 | do 8 tygodni | |
Dysplazje szkieletowe Microcephaly. Screening NGS analysis of genes responsible for clinical symptoms of the disease, based on Whole Exome Sequencing (WES). | MICF-NGS | 3800.00 | do 14 tygodni | |
Dysplazje szkieletowe Short stature/growth deficiency. Screening NGS analysis of genes responsible for clinical symptoms, based on Whole Exome Sequencing (WES). | NWS-NGS | 3800.00 | do 14 tygodni | |
Dysplazje szkieletowe 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 | do 14 tygodni | |
Sticler syndrome | Zespół Sticklera 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 | do 8 tygodni |
Thanatophoric dysplasia type I | Dysplazja tanatoforyczna typ 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 | do 3 tygodni |
OTHER | ||||
Additional services | Analiza pojedynczego amplikonu 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 | do uzgodnienia |
Analiza pojedynczego amplikonu Any marker or mutation from the GENOMED offer, except MLPA | INNE-1 | 350.00 | do uzgodnienia | |
Analiza pojedynczego amplikonu 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 | do uzgodnienia | |
Izolacja i bankowanie DNA Biobanking (up to 5 years). | INNE-5 | 100.00 | do uzgodnienia | |
Analiza pojedynczego amplikonu 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 | do uzgodnienia | |
Analiza pojedynczego amplikonu 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 | do uzgodnienia | |
Anemia sierpowata 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 | do 3 tygodni | |
Polimorfizm ACE I/D Analysis of the ACE I/D genetic polymorphism. | ACE-1 | 390.00 | do 3 tygodni | |
CCR5 genotyping - prognosis of susceptibility to HIV infection | Genotypowanie CCR5 - prognozowanie wrażliwości na zakażenie wirusem HIV Identification of the c.554_585del32 variant in the CCR5 gene | CCR5-1 | 400.00 | do 3 tygodni |
Fanconi anemia | Anemia Fanconiego 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 | do 8 tygodni |
Lymphocyte Karyotype | Badanie kariotypu w limfocytach krwi obwodowej Analysis of quantitative and qualitative chromosome aberrations using classical cytogenetic methods 1 3 | KAR-1 | 590.00 | do 5 tygodni |
Badanie kariotypu w limfocytach krwi obwodowej Analysis of quantitative and qualitative chromosome aberrations using classical cytogenetic methods for both parents 1 3 | KAR-2 | 550.00 | do 5 tygodni | |
Molecular karyotype (array CGH) | Kariotyp molekularny (hybrydyzacja do macierzy CGH) Identification of genome dosage imbalances (aneuploidies, deletions, duplications, unbalanced translocations) with array CGH method 1 | aCGH-1 | 1950.00 | do 6 tygodni |
Kariotyp molekularny (hybrydyzacja do macierzy 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 | do 6 tygodni | |
Newborn screening | Badanie INFANO 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 | do 8 tygodni |
Sex Determination | Identyfikacja płci genetycznej Analysis of genetic markers specific to the AMGX, AMGY and SRY genes | SRY-1 | 300.00 | do 3 tygodni |
Sex determination of miscarriage material | Identyfikacja płci genetycznej materiału poronnego. Badanie do celów prawnych. Analysis of tissue from the miscarriage using genetic markers specific to the AMGX, AMGY and SRY genes | MPXY-1 | 400.00 | do 3 tygodni |
PHARMACOGENETICS | ||||
Candersartan, Irbesartan, Losartan, Warfarin - activity of the CYP2C9 | Ocena aktywności cytochromu P450 2C9 Identification of the CYP2C9*2 and *3 variants | CYP2C9-1 | 660.00 | do 4 tygodni |
Carvedilol, Codeine, Metoprolol, Propranolol and Timolol - activity of the CYP2D6 | Ocena aktywności cytochromu P450 2D6 Identification of the CYP2D6*4 and *3 variants | CYP2D6-1 | 660.00 | do 4 tygodni |
Ocena aktywności cytochromu P450 2D6 Copy number assessment of the CYP2D6 gene by MLPA | CYP2D6-MLPA | 1120.00 | do 6 tygodni | |
Clopidogrel - analysis of the cytochrome CYP2C19 activity | Ocena aktywności cytochromu P450 2C19 Identification of CYP2C19*2, *3, *6 and *17 haplotypes. | CYP2C19-1 | 660.00 | do 4 tygodni |
Malignant hyperthermia | Hipertermia złośliwa NGS analysis of the entire coding region of the RYR1, CACNA1S and STAC3 genes. | MHI-NGS | 2500.00 | do 8 tygodni |
Uwaga!!!
Istnieje mozliwość modyfikacji stosowanego panelu badawczego w zalezności od indywidualnych potrzeb pacjenta. W takich przypadkach prosimy o kontakt telefoniczny lub e-mailowy. Istnieje równiez mozliwosc opracowania zestawu diagnostycznego dla dowolnej jednostki chorobowej genetycznie uwarunkowanej zgodnie z zapotrzebowaniem Zleceniodawcy. |
1 Badanie wykonywane jest w certyfikowanym laboratorium, współpracujacym z NZOZ GENOMED |
2 Materiałem do badania jest tkanka utrwalona w bloczku parafinowym |
3 Materiałem do badania jest krew pobraną do probówki z heparyną |
4 Badanie wykonujemy ze śliny (zestaw Norgen) |
5 Badanie wykonujemy z wymazu (zestaw dedykowany dla niemowląt i małych dzieci) |
6 Badanie wykonujemy z krwi żylnej pobranej na EDTA (probówka morfologiczna) |
7 Materiałem do badania jest fragment trofoblastu |
Nomenklatura wariantów wg Human Genome Variation Society (HGVS) v.19.01. Numeracja eksonów zgodna z sekwencją referencyjną LRG lub HGMD oraz z sekwencją genomową hg38. Klasyfikacja patogenności wariantów wg. American College of Medical Genetics and Genomics (ACMG). Warianty patogenne zidentyfikowane w NGS są potwierdzane metodą Sangera. |
Genomed S.A., ul. Ponczowa 12, 02-971 Warszawa, Spółka wpisana do rejestru prowadzonego przez Sąd Rejonowy dla miasta stołecznego Warszawy w Warszawie, XIII Wydział Gospodarczy Krajowego Rejestru Sądowego pod numerem KRS 0000374741, wysokość kapitału zakładowego 132 130.10 PLN, NIP 7010083563, REGON 141108082 |