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 5 weeks |
| Cardiomyopathy (hypertrophic and dilated) | Cardiomyopathy (hypertrophic and dilated) NGS analysis of coding regions of 29 genes, related to sudden cardiac death (SCD): ACTA2, ACTC1, CASQ2, COL3A1, DSC2, DSG2, DSP, FBN1, FLNC, KCNH2, KCNQ1, LMNA, MYBPC3, MYH11, MYH7, MYL2, MYL3, PKP2, PRKAG2, RYR2, SCN5A, TGFBR1, TGFBR2, TMEM43, 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 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 syndromeHeritable connective tissue disorders
NGS analysis of 60 genes, responsible for clinical symptoms of Ehlers-Danlos syndrome. | EDS3-NGS | 3000.00 | up to 8 weeks | |
| Kabuki syndrome | Kabuki syndrome NGS analysis of 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 RASopatie, w tym zespół Noonan. Analiza sekwencji kodującej 19 genów: BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NF1, NRAS, PPP1CB, PTPN11, RAF1, RIT1, RRAS2, SHOC2, SOS1, SOS2, SPRED1, z wykorzystaniem metod sekwencjonowania nowej generacji. | 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 25 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 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 | ||||
| Genodermatozy | Genodermatozy Analiza przesiewowa sekwencji kodującej genów, związanych z występowaniem objawów klinicznych, wykonywana na podstawie badania pełnoeksomowego (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 | |
| None | Ankylosing spondylitis (Bechterews disease) Determination of the HLA-B27 allele presence 1 | HLA-2 | 380.00 | up to 4 weeks |
| Psoriasis Identyfikacja allela HLA-C*06 1 | HLA-1 | 380.00 | up to 4 weeks | |
| ENDOCRINOLOGIC DISEASES | ||||
| Congenital Adrenal Hyperplasia | Congenital Adrenal Hyperplasia Sequence analysis of the coding region of the CYP21A2 gene and identification of deletions i 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 Zaburzenia rozwoju i różnicowania płci. Analiza sekwencji 19 genów: AR, ARX, ATRX, CHD7, CYP11A1, CYP17A1, DHCR7, DHH, DYNC2H1, HSD17B3, HSD3B2, NEK1, NR5A1, POR, SOX9, SRD5A2, SRY, STAR, WT1, do zastosowania w przypadku m.in rozbieżności pomiędzy płcią genetyczna a fizyczną, wykonywana na podstawie badania pełnoeksomowego (WES). | XY-NGS | 3800.00 | up to 14 weeks |
| Hypogonadism, hypogonadotropic | Hypogonadism, hypogonadotropic Hipogonadyzm hipogonadotropowy. Analiza sekwencji kodującej 32 genów: 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, powiązanych z objawami przedwczesnego lub opóźnionego dojrzewania płciowego, wykonywana na podstawie badania pełnoeksomowego (WES). | HORM-NGS | 3800.00 | up to 14 weeks |
| Pseudohypoparathyroidism, Albright syndrome | Pseudohypoparathyroidism, Albright syndrome Typ Ib. Analiza wzoru metylacji w locus GNAS wraz z oceną delecji/duplikacji w obrębie genów STX16 i GNAS. | PHP-MLPA | 1120.00 | up to 6 weeks |
| Pseudohypoparathyroidism, Albright syndrome Typ Ia i Ic. Analiza sekwencji kodującej genu GNAS z wykorzystaniem metod sekwencjonowania nowej generacji. | PHP-NGS | 2100.00 | up to 8 weeks | |
| GASTROENTEROLOGY | ||||
| 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 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 repeats (TA)n 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 | PKD-NGS | 2500.00 | up to 8 weeks |
| GENOMIC RESEARCH | ||||
| Adrenoleucodystrophy | Adrenoleucodystrophy Adrenoleucodystrophy. Sequence analysis of the coding region of the ABCD1 gene | ALD-1 | 1900.00 | up to 6 weeks |
| Artrogrypoza | Artrogrypoza Analiza przesiewowa sekwencji kodującej genów, związanych z występowaniem objawów klinicznych, wykonywana na podstawie badania pełnoeksomowego (WES). | ARTG-NGS | 3800.00 | up to 14 weeks |
| Ataxia | Ataxia Badanie podstawowe w kierunku ataksji rdzeniowo-móżdżkowych (SCA) obejmuje SCA1, SCA2 i SCA3 1 | SCA-1 | 1450.00 | up to uzgodnienia liczba weeks |
| Ataxia Ataksje wieku dziecięcego. Analiza przesiewowa sekwencji kodującej genów, związanych z występowaniem objawów klinicznych, wykonywana na podstawie badania pełnoeksomowego (WES); UWAGA - badanie powinno być poprzedzone wykluczeniem najczęstszych typów wynikających z ekspansji motywów repetytywnych. | SCA-NGS | 3800.00 | up to 14 weeks | |
| Ataxia Ataksje dorosłych. Analiza przesiewowa sekwencji kodującej genów, związanych z występowaniem objawów klinicznych, wykonywana na podstawie badania pełnoeksomowego (WES); UWAGA - badanie powinno być poprzedzone wykluczeniem najczęstszych typów wynikających z ekspansji motywów repetytywnych. | SCA2-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:
Pathogenic and likely-pathogenic variants, responsible for disease symptoms, confirmed by Sanger sequencing. 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 | up to uzgodnienia liczba weeks | |
| Clinical exome 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 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 | up to uzgodnienia liczba weeks | |
| Genodermatozy | Genodermatozy Analiza przesiewowa sekwencji kodującej genów, związanych z występowaniem objawów klinicznych, wykonywana na podstawie badania pełnoeksomowego (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 MLPA method | CMT-MLPA | 990.00 | up to 6 weeks | |
| Hereditary Sensory and Motor Neuropathies NGS analysis | HNEUR-SNGS | 1750.00 | up to 14 weeks | |
| Hypogonadism, hypogonadotropic | Hypogonadism, hypogonadotropic Hipogonadyzm hipogonadotropowy. Analiza sekwencji kodującej 32 genów: 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, powiązanych z objawami przedwczesnego lub opóźnionego dojrzewania płciowego, wykonywana na podstawie badania pełnoeksomowego (WES). | HORM-NGS | 3800.00 | up to 14 weeks |
| Inborn metabolic disorders | Inborn metabolic disorders NGS analysis of over 600 genes (WES-based custom NGS panel) | IMD-NGS | 3800.00 | up to 14 weeks |
| Inborn metabolic disorders NGS analysis 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, SLC25A20 | UREA-NGS | 3000.00 | up to 8 weeks | |
| Intellectual disability | Intellectual disability Analiza przesiewowa sekwencji kodującej genów, związanych z występowaniem objawów klinicznych, wykonywana na podstawie badania pełnoeksomowego (WES). | NI-NGS | 3800.00 | up to 14 weeks |
| Leukodystrophy | Leukodystrophy Metachromatic leukodystrophy. NGS analysis of genes ARSA and PSAP related to MLD | MLD-NGS | 2100.00 | up to 8 weeks |
| Leukodystrophy Leukodystrofie dorosłych. Analiza przesiewowa sekwencji kodującej genów, związanych z występowaniem objawów klinicznych, wykonywana na podstawie badania pełnoeksomowego (WES). | WMD2-NGS | 3800.00 | up to 14 weeks | |
| Leukodystrophy Leukodystrofie wieku dziecięcego. Analiza przesiewowa sekwencji kodującej genów, związanych z występowaniem objawów klinicznych, wykonywana na podstawie badania pełnoeksomowego (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 |
| Mitochondropatie Analiza przesiewowa sekwencji kodującej genów genomu jądrowego, związanych z występowaniem objawów klinicznych mitochondropatii oraz analiza genomu mitochondrialnego, wykonywana na podstawie badania pełnoeksomowego (WES). | MIT-NGS | 3800.00 | up to 14 weeks | |
| Myopathy | Myopathy Najczęstsze miopatie wrodzone. Badanie obejmuje analizę całej sekwencji kodującej genów RYR1, DNM2, NEB odpowiedzialnych za najczęstsze typy genetycznie uwarunkowanej miopatii. | MIOP-SNGS | 1700.00 | up to 14 weeks |
| Myopathy Najczęstsze miopatie metaboliczne. Badanie obejmuje analizę całej sekwencji kodującej genów PYGM i CPT2, odpowiedzialnych za najczęstsze typy miopatii metabolicznych: chorobę spichrzania glikogenu typu V (niedobór mięśniowej fosforylazy glikogenu) oraz niedobór palmitylotransferazy karnityny II. | MIOPM-SNGS | 1700.00 | up to 14 weeks | |
| Myotonia | Dystrofia miotoniczna Dystrofia miotoniczna (DM) - pojedynczy typ. Analiza w kierunku DM1 (ekspansja powtórzeń CTG w genie DMPK) albo DM2 (ekspansja powtórzeń motywu złożonego (TG)n(TCTG)n(CCTG)n w genie CNBP 1 | DM-POJ | 850.00 | up to 10 weeks |
| Myotonia Najczęstsze miotonie. Badanie obejmuje analizę całej sekwencji kodującej genów CLCN1 i SCN4A odpowiedzialnych za najczęstsze typy miotonii niedystroficznych. | ZMIO-SNGS | 1700.00 | up to 14 weeks | |
| Muscular Dystrophy Myotonic Dystrophy. Screening for 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 over 550 genes | NMD-NGS | 3800.00 | up to 14 weeks |
| Mitochondropatie Analiza przesiewowa sekwencji kodującej genów genomu jądrowego, związanych z występowaniem objawów klinicznych mitochondropatii oraz analiza genomu mitochondrialnego, wykonywana na podstawie badania pełnoeksomowego (WES). | MIT-NGS | 3800.00 | up to 14 weeks | |
| Newborn screening | INFANO Test INFANO - NGS screening for infants and little children covering over 70 genetic disorders for which prophylactic or treatment options are available. Testing includes metabolic diseases, peadiatric cancers, cardiac arrhythmias and other disorders, such as malignant hyperthermia. | INFANO | 2400.00 | up to 8 weeks |
| Malignant Hyperthermia Sequence NGS analysis of the entire coding region of the RYR1, CACNA1S and STAC3 genes. | MHI-NGS | 2500.00 | up to 8 weeks | |
| Parkinson disease | Parkinson disease Sequence analysis of the coding region of over 20 respective genes, including PRKN and PARK7 | 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 | |
| Screening NGS panel for hereditary cancers | Screening NGS panel for hereditary cancers Dziedziczne guzy chromochłonne (paraganglioma/pheochromocytoma). Analiza sekwencji kodującej genów KIF1B, MAX, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127 i VHL z wykorzystaniem metod sekwencjonowania nowej generacji | PHEO-NGS | 2500.00 | up to 8 weeks |
| Screening NGS panel for hereditary cancers | PANC-NGS | 2600.00 | up to 8 weeks | |
| Screening NGS panel for hereditary cancers | LUNG-NGS | 2500.00 | up to 8 weeks | |
| Screening NGS panel for hereditary cancers Dziedziczny rak trzonu macicy (endometrium). Analiza sekwencji kodującej genów TP53, PTEN, STK11, MLH1, MSH2, MSH6, EPCAM i PMS2 z wykorzystaniem metod sekwencjonowania nowej generacji | ENDO-NGS | 2500.00 | up to 8 weeks | |
| Screening NGS panel for hereditary cancers Dziedziczny rak nerki. Analiza sekwencji kodującej genów FH, FHIT, VHL, FLCN, MET, MITF, TSC1, TSC2, PTEN, BAP1, SDHB, SDHC, SDHD, MLH1, MSH2, MSH6, EPCAM i PMS2 z wykorzystaniem metod sekwencjonowania nowej generacji | RENA-NGS | 2600.00 | up to 8 weeks | |
| Hereditary ovarian cancer NGS sequence analysis of the whole coding region 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 | SCHW-NGS | 2500.00 | up to 8 weeks | |
| Screening NGS panel for hereditary cancers Dziedziczne nowotwory układu krwiotwórczego (białaczki). Analiza sekwencji kodującej genów 26 genów: 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 i TP53 z wykorzystaniem metod sekwencjonowania nowej generacji | LEUK-NGS | 3000.00 | up to 8 weeks | |
| Hereditary breast cancer NGS analysis of the whole coding sequence of ATM, BRCA1, BRCA2, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11 and TP53 genes together with 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 family history of cancer - NGS analysis of the whole coding sequence of 90 hereditary cancer-related genes. | ONKO-MAX | 2800.00 | up to 8 weeks | |
| Hereditary breast/ovarian cancer For HBOC families. NGS analysis of the whole coding sequence of ATM, BRCA1, BRCA2, BARD1, BRIP1, CHEK2, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11 and TP53 genes together with 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 whole coding region of BRCA1, BRCA2, CHEK2 and PALB2 genes. | BRCA-NGS | 2100.00 | up to 8 weeks | |
| Melanoma Analiza przesiewowa (NGS) sekwencji kodującej genów BRCA1, BRCA2, BAP1, CDKN2A, CDK4, MC1R, MITF, POT1, PTCH1, TP53, PTEN, SUFU, TERT w kierunku predyspozycji do rozwoju nowotworów skóry, w tym czerniaka | CZER-NGS | 2500.00 | up to 8 weeks | |
| Wrodzone niedobory odporności/deficyty immunologiczne | Wrodzone niedobory odporności/deficyty immunologiczne Analiza przesiewowa sekwencji kodującej genów, związanych z występowaniem objawów klinicznych, wykonywana na podstawie badania pełnoeksomowego (WES). | IMUN-NGS | 3800.00 | up to 14 weeks |
| Wrodzone niedobory odporności/deficyty immunologiczne Niedobory odporności, w tym SCID. Analiza sekwencji kodującej 25 genów związanych z objawami choroby: 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 | |
| GYNECOLOGY and INFERTILITY | ||||
| Congenital Adrenal Hyperplasia | Congenital Adrenal Hyperplasia Sequence analysis of the coding region of the CYP21A2 gene and identification of deletions i 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 Zaburzenia rozwoju i różnicowania płci. Analiza sekwencji 19 genów: AR, ARX, ATRX, CHD7, CYP11A1, CYP17A1, DHCR7, DHH, DYNC2H1, HSD17B3, HSD3B2, NEK1, NR5A1, POR, SOX9, SRD5A2, SRY, STAR, WT1, do zastosowania w przypadku m.in rozbieżności pomiędzy płcią genetyczna a fizyczną, wykonywana na podstawie badania pełnoeksomowego (WES). | XY-NGS | 3800.00 | up to 14 weeks |
| Hypogonadism, hypogonadotropic | Hypogonadism, hypogonadotropic Hipogonadyzm hipogonadotropowy. Analiza sekwencji kodującej 32 genów: 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, powiązanych z objawami przedwczesnego lub opóźnionego dojrzewania płciowego, wykonywana na podstawie badania pełnoeksomowego (WES). | HORM-NGS | 3800.00 | up to 14 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 | |
| Premature Ovarian Failure | Premature Ovarian Failure Identification of the normal number of (CGG) triplets in the FMR1 gene - screening test | POF-1 | 400.00 | up to 5 weeks |
| Premature Ovarian Failure Analiza sekwencji kodującej m.in: 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 w przypadku podejrzenia pierwotnej niewydolności jajników lub wczesnego wyczerpania rezerwy jajnikowej; rozszerzenie diagnostyki po POF-1, wykonywane na podstawie badania pełnoeksomowego (WES). | POF-NGS | 3800.00 | up to 14 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 |
| 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 homozygous 57kb deletion in the CTNS gene - clinical outcome verification | CTNS-1 | 600.00 | up to 3 weeks |
| Diabetes | Diabetes Cukrzyca insulinoniezależna dorosłych i cukrzyca typu II. Analiza sekwencji 22 genów: ABCC8, AKT2, ENPP1, G6PC2, GCK, GLUD1, GPD2, HADH, HMGA1, INS, INSR, IRS1, KCNJ11, MAPK8IP1, MTNR1B, PAX4, PPARG, PPP1R3A, PTPN1, RETN, RFX6, SLC16A1, predysponujących do rozwoju choroby. | DIABETES-NGS | 3000.00 | up to 8 weeks |
| Diabetes Cukrzyce typu MODY. Analiza sekwencji kodującej genów ABCC8,, APPL1, BLK, CEL, GCK, GLUD1, HADH, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1, powiązanych z objawami choroby. | MODY-NGS | 2500.00 | up to 8 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 Niedokrwistość hemolityczna/niedobór dehydrogenazy glukozo-6-fosforanowej. Analiza sekwencji kodującej genu G6PD z wykorzystaniem metod sekwencjonowania nowej generacji | G6PD-NGS | 2100.00 | up to 8 weeks |
| Hereditary hypophosphatemic rickets | Hereditary hypophosphatemic rickets Krzywice fosfatemiczne (różne typy). Analiza sekwencji kodującej 16 genów: ALPL, ANKH, AP2S1, CASR, CLCN5, CYP27B1, CYP2R1, DMP1, ENPP1, FAH, FGF23, PHEX, SLC34A1, SLC34A3, SLC9A3R1, VDR powiązanych z objawami choroby. | PHEX-NGS | 3000.00 | up to 8 weeks |
| Inborn metabolic disorders | Inborn metabolic disorders NGS analysis of over 600 genes (WES-based custom NGS panel) | IMD-NGS | 3800.00 | up to 14 weeks |
| Inborn metabolic disorders NGS analysis 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, 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 |
| Mitochondropatie Analiza przesiewowa sekwencji kodującej genów genomu jądrowego, związanych z występowaniem objawów klinicznych mitochondropatii oraz analiza genomu mitochondrialnego, wykonywana na podstawie badania pełnoeksomowego (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 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 Analiza sekwencji kodującej 13 genów ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1 i TPP1, związanych z występowaniem objawów klinicznych, wykonywana na podstawie sekwencjonowania nowej generacji. | CLN-NGS | 3000.00 | up to 8 weeks | |
| Newborn screening | INFANO Test INFANO - NGS screening for infants and little children covering over 70 genetic disorders for which prophylactic or treatment options are available. Testing includes metabolic diseases, peadiatric cancers, cardiac arrhythmias and other disorders, such as malignant hyperthermia. | INFANO | 2400.00 | up to 8 weeks |
| Malignant Hyperthermia Sequence NGS analysis of the entire coding region of the RYR1, CACNA1S and STAC3 genes. | MHI-NGS | 2500.00 | 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 |
| 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 |
| NEUROLOGY | ||||
| Aceruloplasminemia | Aceruloplasminemia NGS analysis of the CP gene | CP-NGS | 2100.00 | up to 8 weeks |
| Adrenoleucodystrophy | Adrenoleucodystrophy Adrenoleucodystrophy. 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 31 genes related to ALS: ALS2, ANG, ANXA11, CFAP410, CHCHD10, CHMP2B, DAO, DCTN1, ERBB4, FIG4, FUS, GRN, HNRNPA1, KIF5A, MATR3, NEFH, NEK1, OPTN, PFN1, PRPH, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB and VCP. | ALS-NGS | 2800.00 | up to 8 weeks |
| Amyotrophic lateral sclerosis (ALS) Identification of the (GGGGCC) repeat expansion in the C9orf72 gene (genetic background of 37-45% of familial cases). | ALS-1 | 860.00 | up to 4 weeks | |
| Amyotrophic lateral sclerosis (ALS) Most common motor neuron disease (ALS). Analysis of the coding sequences of the FUS and SOD1 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 Badanie podstawowe w kierunku ataksji rdzeniowo-móżdżkowych (SCA) obejmuje SCA1, SCA2 i SCA3 1 | SCA-1 | 1450.00 | up to uzgodnienia liczba weeks |
| Ataxia Ataksje wieku dziecięcego. Analiza przesiewowa sekwencji kodującej genów, związanych z występowaniem objawów klinicznych, wykonywana na podstawie badania pełnoeksomowego (WES); UWAGA - badanie powinno być poprzedzone wykluczeniem najczęstszych typów wynikających z ekspansji motywów repetytywnych. | SCA-NGS | 3800.00 | up to 14 weeks | |
| Ataxia Ataksje dorosłych. Analiza przesiewowa sekwencji kodującej genów, związanych z występowaniem objawów klinicznych, wykonywana na podstawie badania pełnoeksomowego (WES); UWAGA - badanie powinno być poprzedzone wykluczeniem najczęstszych typów wynikających z ekspansji motywów repetytywnych. | SCA2-NGS | 3800.00 | up to 14 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 | 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 |
| Epilepsy Dravet syndrome. NGS analysis of 7 genes related to disease: SCN1A, GABRG2, SCN2A, SCN9A, GABRA1, PCDH19 and STXBP1 | DRAVET-NGS | 2500.00 | up to 8 weeks | |
| Epilepsy Analiza przesiewowa sekwencji kodującej genów, związanych z występowaniem objawów klinicznych padaczki, wykonywana na podstawie badania pełnoeksomowego (WES). | EPI1-NGS | 3800.00 | up to 14 weeks | |
| Frontotemporal dementia (FTD) | Frontotemporal dementia (FTD) NGS analysis of 11 genes related to FTD: ANG, CHCHD10, CHMP2B, FUS, GRN, MAPT, PRNP, SQSTM1, TARDBP, UBQLN2, VCP, | FTD-NGS | 2500.00 | up to 8 weeks |
| Genodermatozy | Genodermatozy Analiza przesiewowa sekwencji kodującej genów, związanych z występowaniem objawów klinicznych, wykonywana na podstawie badania pełnoeksomowego (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 MLPA method | CMT-MLPA | 990.00 | up to 6 weeks | |
| Hereditary Sensory and Motor Neuropathies NGS analysis | HNEUR-SNGS | 1750.00 | 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) Dziedziczna paraplegia spastyczna wieku dziecięcego. Analiza z wykorzystaniem metod sekwencjonowania nowej generacji, wykonywana na podstawie badania pełnoeksomowego (WES). | SPG-NGS2 | 3800.00 | up to 14 weeks | |
| Hereditary spastic paraplegia (HSP) Screening WES analysis of adult disease-related genes. | SPG-NGS3 | 3800.00 | up to 14 weeks | |
| Hereditary spastic paraplegia (HSP) Identification of large deletions i duplications in the SPG7 and REEP1 genes using MLPA method | SPG7-MLPA | 990.00 | up to 8 weeks | |
| Homocystinuria | Homocystinuria NGS analysis of the CBS</> gene | CBS-NGS | 2100.00 | up to 8 weeks |
| Intellectual disability | Intellectual disability Analiza przesiewowa sekwencji kodującej genów, związanych z występowaniem objawów klinicznych, wykonywana na podstawie badania pełnoeksomowego (WES). | NI-NGS | 3800.00 | up to 14 weeks |
| Kabuki syndrome | Kabuki syndrome NGS analysis of KMT2D and KDM6A genes. | KABUKI-NGS | 2100.00 | up to 8 weeks |
| Krabbe Disease | Krabbe Disease Identification of the IVS10del30kb deletion in the GALC gene | 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 genes ARSA and PSAP related to MLD | MLD-NGS | 2100.00 | up to 8 weeks |
| Leukodystrophy Leukodystrofie dorosłych. Analiza przesiewowa sekwencji kodującej genów, związanych z występowaniem objawów klinicznych, wykonywana na podstawie badania pełnoeksomowego (WES). | WMD2-NGS | 3800.00 | up to 14 weeks | |
| Leukodystrophy Leukodystrofie wieku dziecięcego. Analiza przesiewowa sekwencji kodującej genów, związanych z występowaniem objawów klinicznych, wykonywana na podstawie badania pełnoeksomowego (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 |
| Mitochondropatie Analiza przesiewowa sekwencji kodującej genów genomu jądrowego, związanych z występowaniem objawów klinicznych mitochondropatii oraz analiza genomu mitochondrialnego, wykonywana na podstawie badania pełnoeksomowego (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 |
| 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 | |
| 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 Dystrofia twarzowo-łopatkowo-ramieniowa (FSHD). Analiza liczby powtórzeń motywu makrosatelitarnego w regionie subtelomerowym D4Z4, zlokalizowanym w 4q35, z zastosowaniem hybrydyzacji genomowej typu Southern 1 | FSHD-1 | 5500.00 | up to uzgodnienia liczba weeks | |
| Muscular Dystrophy Najczęstsze dystrofie mięśniowe. Badanie obejmuje analizę całej sekwencji kodującej genów ANO5, CAPN3, DMD, DYSF, FKRP, SGCA, SGCB i SGCG, odpowiedzialnych za najczęstsze typy dystrofii obręczowo-kończynowych oraz dystrofinopatie (dystrofię Duchenne`a/Beckera) | NMD-SNGS | 1750.00 | up to 14 weeks | |
| Muscular Dystrophy Najczęstsze wrodzone dystrofie mięśniowe. Badanie obejmuje analizę całej sekwencji kodującej genów LMNA, SELENON, COL6A1, COL6A2, COL6A3 odpowiedzialnych za najczęstsze typy dystrofii wrodzonych (tj. gdy objawy choroby występują od urodzenia). | NMDW-SNGS | 1700.00 | up to 14 weeks | |
| Myopathy | Myopathy Najczęstsze miopatie wrodzone. Badanie obejmuje analizę całej sekwencji kodującej genów RYR1, DNM2, NEB odpowiedzialnych za najczęstsze typy genetycznie uwarunkowanej miopatii. | MIOP-SNGS | 1700.00 | up to 14 weeks |
| Myopathy Najczęstsze miopatie metaboliczne. Badanie obejmuje analizę całej sekwencji kodującej genów PYGM i CPT2, odpowiedzialnych za najczęstsze typy miopatii metabolicznych: chorobę spichrzania glikogenu typu V (niedobór mięśniowej fosforylazy glikogenu) oraz niedobór palmitylotransferazy karnityny II. | MIOPM-SNGS | 1700.00 | up to 14 weeks | |
| Myotonia | Dystrofia miotoniczna Dystrofia miotoniczna (DM) - pojedynczy typ. Analiza w kierunku DM1 (ekspansja powtórzeń CTG w genie DMPK) albo DM2 (ekspansja powtórzeń motywu złożonego (TG)n(TCTG)n(CCTG)n w genie CNBP 1 | DM-POJ | 850.00 | up to 10 weeks |
| Myotonia Najczęstsze miotonie. Badanie obejmuje analizę całej sekwencji kodującej genów CLCN1 i SCN4A odpowiedzialnych za najczęstsze typy miotonii niedystroficznych. | ZMIO-SNGS | 1700.00 | up to 14 weeks | |
| Muscular Dystrophy Myotonic Dystrophy. Screening for 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 Analiza sekwencji kodującej 13 genów ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1 i TPP1, związanych z występowaniem objawów klinicznych, wykonywana na podstawie sekwencjonowania nowej generacji. | CLN-NGS | 3000.00 | up to 8 weeks | |
| Oculopharyngeal Muscular Dystrophy | Oculopharyngeal Muscular Dystrophy Screening for (GCN)n expansion in PABPN1 gene | PABPN1-1 | 490.00 | up to 4 weeks |
| Parkinson disease | Parkinson disease Sequence analysis of the coding region of over 20 respective genes, including PRKN and PARK7 | PARK-NGS | 3800.00 | up to 14 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 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 Analiza rozległych delecji/duplikacji w genie MECP2 metodą MLPA 1 | RETT-MLPA | 990.00 | up to 8 weeks | |
| Rubinstein-Taybi Syndrome | Rubinstein-Taybi Syndrome Analiza rozległych delecji/duplikacji w genie CREBBP metodą MLPA 1 | RSTS-MLPA | 990.00 | up to X weeks |
| 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 |
| 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 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 Analiza rozległych delecji/duplikacji w genie BRCA1 lub BRCA2 metodą 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 | |
| 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 Analiza rozległych delecji/duplikacji w genie RB1 metodą MLPA | RB1-MLPA | 990.00 | up to 8 weeks | |
| Screening NGS panel for hereditary cancers | Screening NGS panel for hereditary cancers Dziedziczne guzy chromochłonne (paraganglioma/pheochromocytoma). Analiza sekwencji kodującej genów KIF1B, MAX, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127 i VHL z wykorzystaniem metod sekwencjonowania nowej generacji | PHEO-NGS | 2500.00 | up to 8 weeks |
| Screening NGS panel for hereditary cancers | PANC-NGS | 2600.00 | up to 8 weeks | |
| Screening NGS panel for hereditary cancers | LUNG-NGS | 2500.00 | up to 8 weeks | |
| Screening NGS panel for hereditary cancers Dziedziczny rak trzonu macicy (endometrium). Analiza sekwencji kodującej genów TP53, PTEN, STK11, MLH1, MSH2, MSH6, EPCAM i PMS2 z wykorzystaniem metod sekwencjonowania nowej generacji | ENDO-NGS | 2500.00 | up to 8 weeks | |
| Screening NGS panel for hereditary cancers Dziedziczny rak nerki. Analiza sekwencji kodującej genów FH, FHIT, VHL, FLCN, MET, MITF, TSC1, TSC2, PTEN, BAP1, SDHB, SDHC, SDHD, MLH1, MSH2, MSH6, EPCAM i PMS2 z wykorzystaniem metod sekwencjonowania nowej generacji | RENA-NGS | 2600.00 | up to 8 weeks | |
| Hereditary ovarian cancer NGS sequence analysis of the whole coding region 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 | SCHW-NGS | 2500.00 | up to 8 weeks | |
| Screening NGS panel for hereditary cancers Dziedziczne nowotwory układu krwiotwórczego (białaczki). Analiza sekwencji kodującej genów 26 genów: 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 i TP53 z wykorzystaniem metod sekwencjonowania nowej generacji | LEUK-NGS | 3000.00 | up to 8 weeks | |
| Hereditary breast cancer NGS analysis of the whole coding sequence of ATM, BRCA1, BRCA2, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11 and TP53 genes together with 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 family history of cancer - NGS analysis of the whole coding sequence of 90 hereditary cancer-related genes. | ONKO-MAX | 2800.00 | up to 8 weeks | |
| Hereditary breast/ovarian cancer For HBOC families. NGS analysis of the whole coding sequence of ATM, BRCA1, BRCA2, BARD1, BRIP1, CHEK2, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11 and TP53 genes together with 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 whole coding region of BRCA1, BRCA2, CHEK2 and PALB2 genes. | BRCA-NGS | 2100.00 | up to 8 weeks | |
| Melanoma Analiza przesiewowa (NGS) sekwencji kodującej genów BRCA1, BRCA2, BAP1, CDKN2A, CDK4, MC1R, MITF, POT1, PTCH1, TP53, PTEN, SUFU, TERT w kierunku predyspozycji do rozwoju nowotworów skóry, w tym czerniaka | 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) Analiza rozległych delecji/duplikacji w genie VHL metodą 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 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 |
| Mitochondropatie Analiza przesiewowa sekwencji kodującej genów genomu jądrowego, związanych z występowaniem objawów klinicznych mitochondropatii oraz analiza genomu mitochondrialnego, wykonywana na podstawie badania pełnoeksomowego (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 |
| Sticler syndrome | Sticler syndrome Dziedziczna postępująca artrooftalmopatia. Analiza sekwencji kodującej genów COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, z wykorzystaniem metod sekwencjonowania nowej generacji | STS-NGS | 2500.00 | up to 8 weeks |
| ORTHOPAEDICS | ||||
| 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 | Artrogrypoza Analiza przesiewowa sekwencji kodującej genów, związanych z występowaniem objawów klinicznych, wykonywana na podstawie badania pełnoeksomowego (WES). | ARTG-NGS | 3800.00 | up to 14 weeks |
| Beckwith-Wiedemann Syndrome | Beckwith-Wiedemann Syndrome Analiza wzoru metylacji wraz z oceną delecji/duplikacji w locus 11p15 metodą MS-MLPA 1 | BWS-MLPA | 990.00 | up to 8 weeks |
| Coffin-Lowry Syndrome | Coffin-Lowry Syndrome Analiza sekwencji kodującej genu RPS6KA3 z wykorzystaniem metod sekwencjonowania nowej generacji | CLS-NGS | 2100.00 | up to 8 weeks |
| Cornelai de Lange Syndrome | Cornelai de Lange Syndrome Analiza sekwencji kodującej genów HDAC8, NIPBL, RAD21, SMC1A, SMC3, z wykorzystaniem metod sekwencjonowania nowej generacji | CDLS-NGS | 2500.00 | up to 8 weeks |
| Craniosynostosis | Craniosynostosis Analiza przesiewowa 74 genów odpowiedzialnych za objawy kliniczne, do zastosowania w badaniach prenatalnych i postnatalnych | 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 syndromeHeritable 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 Krzywice fosfatemiczne (różne typy). Analiza sekwencji kodującej 16 genów: ALPL, ANKH, AP2S1, CASR, CLCN5, CYP27B1, CYP2R1, DMP1, ENPP1, FAH, FGF23, PHEX, SLC34A1, SLC34A3, SLC9A3R1, VDR powiązanych z objawami choroby. | PHEX-NGS | 3000.00 | up to 8 weeks |
| Homocystinuria | Homocystinuria NGS analysis of the CBS</> gene | CBS-NGS | 2100.00 | up to 8 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 COL1A1 and COL1A2genes. | OI-NGS | 2100.00 | up to 8 weeks |
| Rubinstein-Taybi Syndrome | Rubinstein-Taybi Syndrome Analiza rozległych delecji/duplikacji w genie CREBBP metodą MLPA 1 | RSTS-MLPA | 990.00 | up to X weeks |
| Silver-Russell Syndrome | Silver-Russell Syndrome | SRS1-MLPA | 990.00 | up to 8 weeks |
| Skeletal dysplasias | Skeletal dysplasias Zespół Ellisa-van Crevelda (EVCS). Analiza sekwencji kodującej genów EVC i EVC2 z wykorzystaniem metod sekwencjonowania nowej generacji | EVCS-NGS | 2100.00 | up to 8 weeks |
| Skeletal dysplasias | TCS-NGS | 2500.00 | up to 8 weeks | |
| Skeletal dysplasias | CED-NGS | 2500.00 | up to 8 weeks | |
| Skeletal dysplasias Najczęstsze dysplazje szkieletowe ze skróceniem kończyn w okresie prenatalnym (AHG). Analiza sekwencji kodującej genów ALPL, COL1A1, COL1A2, COL2A1, FGFR3, SLC26A2, SOX9, TRIP11, z wykorzystaniem metod sekwencjonowania nowej generacji | AHG-NGS | 2500.00 | up to 6 weeks | |
| Skeletal dysplasias Dysplazja czołowo-nosowa (FND). Analiza sekwencji kodującej genów ALX1, ALX3, ALX4 z wykorzystaniem metod sekwencjonowania nowej generacji | FND-NGS | 2500.00 | up to 8 weeks | |
| Skeletal dysplasias Małogłowie/ mikrocefalia. Analiza przesiewowa sekwencji kodującej genów, związanych z występowaniem objawów klinicznych, wykonywana na podstawie badania pełnoeksomowego (WES). | MICF-NGS | 3800.00 | up to 14 weeks | |
| Skeletal dysplasias Niskorosłość/ niedobór wzrostu. Analiza przesiewowa sekwencji kodującej genów, związanych z występowaniem objawów klinicznych, wykonywana na podstawie badania pełnoeksomowego (WES). | NWS-NGS | 3800.00 | up to 14 weeks | |
| Skeletal dysplasias Analiza przesiewowa sekwencji kodującej genów, zgodnie z klasyfikacją 2019 Nosology Committee of the International Skeletal Dysplasia Society, związanych z występowaniem objawów klinicznych, wykonywana na podstawie badania pełnoeksomowego (WES). | OCHD-NGS | 3800.00 | up to 14 weeks | |
| Sticler syndrome | Sticler syndrome Dziedziczna postępująca artrooftalmopatia. Analiza sekwencji kodującej genów COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, z wykorzystaniem metod sekwencjonowania nowej generacji | STS-NGS | 2500.00 | up to 8 weeks |
| OTHER | ||||
| Additional services | Additional services Badanie nosicielstwa choroby uwarunkowanej dominująco. Identyfikacja rodzinnego wariantu genetycznego stwierdzonego uprzednio w badaniu NGS przeprowadzonym w Laboratorium NZOZ Genomed. | INNE-7 | 350.00 | up to uzgodnienia liczba weeks |
| Additional services Any marker or mutation from the GENOMED offer, except MLPA | INNE-1 | 350.00 | up to uzgodnienia liczba weeks | |
| Additional services Analysis of a mutation/amplicon not included in the standard offer. | INNE-4 | 650.00 | up to uzgodnienia liczba weeks | |
| Additional services Biobanking (up to 5 years). | INNE-5 | 100.00 | up to uzgodnienia liczba weeks | |
| Additional services Badanie nosicielstwa choroby uwarunkowanej recesywnie. Identyfikacja wariantów genetycznych stwierdzonych uprzednio w badaniu NGS przeprowadzonym w Laboratorium NZOZ Genomed. | INNE-6 | 600.00 | up to uzgodnienia liczba weeks | |
| Additional services Analiza metodą NGS całej sekwencji kodującej dowolnego genu z paneli genowych dostępnych w ofercie NZOZ Genomed (z wyłączeniem paneli w oparciu o WES). Zamówienie tego badania może nastąpić WYŁĄCZNIE po uzyskaniu zgody laboratorium (diagnostyka@genomed.pl) | INNE-NGS | 1800.00 | up to uzgodnienia liczba weeks | |
| 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 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 |
| Clinical exome | Clinical exome Whole exome sequencing (WES) with the subsequent analysis restricted to clinical indications. Including an analysis of:
Pathogenic and likely-pathogenic variants, responsible for disease symptoms, confirmed by Sanger sequencing. 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 | up to uzgodnienia liczba weeks | |
| Clinical exome 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 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 | |
| Fanconi anemia | Fanconi anemia Analiza sekwencji kodującej genów BLM, BRCA1, BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, PALB2, SLX4, z wykorzystaniem metod sekwencjonowania nowej generacji | 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 | |
| Microdeletion Syndromes | Microdeletion Syndromes Microdeletion syndromes analysis: 1p36, 2p16, 2q23/MBD5, 2q33/SATB2, 3q29, 9q22.3, 15q24, 17q21, 22q13/Phelan-McDermid, 5p15 (Cri du Chat syndrome), 22q11 (DiGeorge syndrome), 22q11 dystal region, 10p15, 8q (Langer-Giedion syndrome), 17p (Miller-Dieker syndrome), NF1, Prader-Willi/ Angelman syndrome, MECP2 duplication / Xq28, Rubinstein-Taybi syndrome, Smith-Magenis syndrome, 5q35.3 (Sotos syndrome), Williams syndrome, 4p16.3 (Wolf-Hirschhorn syndrome) by MLPA 1 | MICDEL-1 | 770.00 | up to 5 weeks |
| Microdeletion Syndromes Microdeletion syndromes analysis: 1q21.1 (TAR), 1q21.1 (distal), 3q29, 15q13, 15q24, 16p13.11, 16p12.1-p11.2, 16p11.2, (proximal and distal), 17q12) by MLPA 1 | MICDEL-2 | 770.00 | up to 5 weeks | |
| Newborn screening | INFANO Test INFANO - NGS screening for infants and little children covering over 70 genetic disorders for which prophylactic or treatment options are available. Testing includes metabolic diseases, peadiatric cancers, cardiac arrhythmias and other disorders, such as malignant hyperthermia. | INFANO | 2400.00 | up to 8 weeks |
| Malignant Hyperthermia Sequence NGS analysis of the entire coding region of the RYR1, CACNA1S and STAC3 genes. | MHI-NGS | 2500.00 | 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 |
| 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 5 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 3 weeks |
| 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 |
| 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). NGS pathogenic variants confirmed by Sanger. |
| 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 |