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
Badania genetyczne oferowane przez NZOZ Genomed - February 2025

Jednostka chorobowa Opis badania Kod
badania
Koszt
badania
[PLN]
Termin
realizacji
AUDIOLOGY
Alport syndromeZespół Alporta
NGS analysis of COL4A3, COL4A4 and COL4A5 genes.
AS-NGS2500.00 do 8 tygodni
Deafness and Hereditary Hearing LossNiedosłuch 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
GJB2-2375.00 do 3 tygodni
Niedosłuch wrodzony
NGS analysis of over 60 genes (custom panel)
DFN-NGS3800.00 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
GJB6-1380.00 do 3 tygodni
Niedosłuch wrodzony
Deletion/duplication analysis of the GJB2, GJB3, GJB6, WFS1 and POU3F4 genes
GJB2-MLPA990.00 do 6 tygodni
CARDIOLOGY
Alagille syndromeZespół Alagille`a
NGS analysis of JAG1 and NOTCH2 genes
ALGS-NGS2100.00 do 8 tygodni
Candersartan, Irbesartan, Losartan, Warfarin - activity of the CYP2C9Ocena aktywności cytochromu P450 2C9
Identification of the CYP2C9*2 and *3 variants
CYP2C9-1660.00 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:  ACTA2ACTC1, BAG3, CASQ2COL3A1, DES, DSC2DSG2DSPFBN1FLNCKCNH2KCNQ1LMNAMYBPC3MYH11MYH7MYL2MYL3PKP2PRKAG2, RBM20, RYR2SCN5ATGFBR1TGFBR2TMEM43, TNNC1, TNNI3TNNT2TPM1TRDNTTN 
KP-ACMG-NGS3000.00 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-NGS3800.00 do 14 tygodni
Carvedilol, Codeine, Metoprolol, Propranolol and Timolol - activity of the CYP2D6Ocena aktywności cytochromu P450 2D6
Identification of the CYP2D6*4 and *3 variants
CYP2D6-1660.00 do 4 tygodni
Ocena aktywności cytochromu P450 2D6
Copy number assessment of the CYP2D6 gene by MLPA
CYP2D6-MLPA1120.00 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-NGS2500.00 do 8 tygodni
Clopidogrel - analysis of the cytochrome CYP2C19 activityOcena aktywności cytochromu P450 2C19
Identification of CYP2C19*2, *3, *6 and *17 haplotypes.
CYP2C19-1660.00 do 4 tygodni
Congenital thrombophiliaTrombofilia 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
F5-2450.00 do 3 tygodni
Costello SyndromeZespół Costello
Identification of the most frequent mutations in codons 12 and 13 and other mutations in exon 2 of the HRAS gene
COS-1420.00 do 3 tygodni
Ehlers-Danlos syndromeZespół 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-NGS2500.00 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-MLPA900.00 do 8 tygodni
Zespół Ehlersa-Danlosa
Heritable connective tissue disorders. NGS analysis of  60 genes, responsible for clinical symptoms of  Ehlers-Danlos syndrome.
EDS3-NGS3000.00 do 8 tygodni
HypercholesterolemiaHipercholesterolemia
NGS analysis of LDLR, APOB, PCSK9 and LDLRAP1 genes.
FHP-NGS1900.00 do 8 tygodni
Kabuki syndromeZespół Kabuki
NGS analysis of the entire coding sequence of the KMT2D and KDM6A genes.
KABUKI-NGS2100.00 do 8 tygodni
Long QT syndromeZespół wydłużonego QT
Long QT Syndrome types 1-3 (LQTS 1-3). NGS analysis of KCNQ1, KCNH2 and SCN5A genes.
LQT-NGS2500.00 do 8 tygodni
Marfan SyndromeZespół Marfana
NGS analysis of the FBN1 gene.
FBN1-NGS2100.00 do 8 tygodni
RasopathiesRASopatie
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-NGS2500.00 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-NGS3000.00 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-1300.00 do 3 tygodni
Mukowiscydoza (CF)
Targeted mutation analysis in the CFTR gene - carrier testing for a mutation of choice.
CF-0330.00 do 3 tygodni
Mukowiscydoza (CF)
NGS analysis of the CFTR gene.
CF-NGS2200.00 do 8 tygodni
DERMATOLOGY
Ectodermal dysplasiaDysplazja ektodermalna
WES
EDA-NGS3800.00 do 14 tygodni
GenodermatosesGenodermatozy
Screening NGS analysis of genes responsible for clinical symptoms of genodermatoses (inherited skin diseases), based on Whole Exome Sequencing (WES).
GDM-NGS3800.00 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-NGS2400.00 do 8 tygodni
McCune-Albright syndromeZespół 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-1450.00 do 3 tygodni
Netherton SyndromeZespół Nethertona
Screening NGS analysis of the SPINK5 gene.
SPINK5-NGS2100.00 do 8 tygodni
NeurofibromatosisNeurofibromatoza
Neurofibromatosis type I (von Recklinghausen`s Disease). Identification of large deletions and insertions in the NF1 gene using MLPA method
NF1-MLPA990.00 do 6 tygodni
Neurofibromatoza
Neurofibromatosis type I, II and Legius syndrome. NGS analysis of NF1, NF2 and SPRED1 genes.
NF-NGS1900.00 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-MLPA990.00 do 8 tygodni
PorphyriaPorfiria
Sequence analysis of the coding region of the PPOX, CPOX, HMBS and ALAD genes
PRF-NGS2500.00 do 8 tygodni
Łuszczyca, łuszczycowe zapalenie stawówZesztywniające zapalenie stawów kręgosłupa (Zzsk)
Determination of the HLA-B27 allele presence 1
HLA-2380.00 do 4 tygodni
Łuszczyca, łuszczycowe zapalenie stawów
Determination of the presence of the HLA-C*06 allele 1
HLA-1380.00 do 4 tygodni
ENDOCRINOLOGIC DISEASES
ANDROGEN INSENSITIVITY SYNDROMEZespół niewrażliwości na androgeny
Sequence analysis of the coding region of the androgen receptor (AR) gene, together with a genetic sex determination
AR-SNGS1700.00 do 14 tygodni
Congenital Adrenal HyperplasiaWrodzony 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-11650.00 do 6 tygodni
Disorder of sex developmentZaburzenia 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-NGS3800.00 do 14 tygodni
Hypogonadism, hypogonadotropicHipogonadyzm 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-NGS3800.00 do 14 tygodni
Pseudohypoparathyroidism, Albright syndromeRzekoma 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-MLPA1120.00 do 6 tygodni
Rzekoma niedoczynność przytarczyc, zespół Albrighta
Type Ia and Ic. NGS analysis of the coding sequence of the GNAS gene.
PHP-NGS2100.00 do 8 tygodni
Thyroid Hormone ResistanceNiewrażliwość na hormony tarczycy
Sequence analysis of exons 7-10 of the THRB gene
THRB-1730.00 do 3 tygodni
GASTROENTEROLOGY
Alpha1-Antitrypsin DeficiencyDeficyt alfa1-antytrypsyny
Identification of the p.Glu288Val (S allele, E264V) and p.Glu366Lys (Z allele, E342K) mutations in the SERPINA1 gene
AAT-1550.00 do 3 tygodni
Deficyt alfa1-antytrypsyny
Sequence analysis of the coding region of the SERPINA1 gene
AAT-3750.00 do 4 tygodni
Coeliac diseaseCeliakia
Identification of the HLA-DQ2 and DQ8 haplotypes1
CELIAKIA-1400.00 do 4 tygodni
Crigler-Najjar SyndromeZespół Criglera-Najjara
Sequence analysis of the coding region and the fragment of promoter region of the UGT1A1 gene
CRIG-11200.00 do 4 tygodni
Diffuse Gastric CancerNowotwór żołądka - postać rozlana
NGS analysis of the entire coding sequence of the CDH1 gene.
CDH-NGS2100.00 do 8 tygodni
FructosemiaFruktozemia
Identification of the p.Ala150Pro and p.Ala175Asp mutations and other located in the exon 5 of the ALDOB gene
ALDOB-1450.00 do 3 tygodni
Gilbert SyndromeZespół Gilberta
Analysis of the number of (TA)n repeats in the UGT1A1 gene promoter
UGT-1370.00 do 3 tygodni
HaemochromatosisHemochromatoza
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-1550.00 do 3 tygodni
Hemochromatoza
NGS analysis of HFE, HJV, HAMP, TFR2,BMP6 and SLC40A1 genes.
HFE-NGS2500.00 do 8 tygodni
Inherited polyposesDziedziczna 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-1600.00 do 4 tygodni
Dziedziczna polipowatość jelita grubego
Adenomatous polyposis (FAP, MAP, juvenile). Screening NGS analysis of APC, MUTYH, BMPR1A and SMAD4 genes
POLYP-NGS2500.00 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-NGS2500.00 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-2600.00 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-NGS2500.00 do 8 tygodni
Polycystic kidney diseaseWielotorbielowatość 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-NGS2500.00 do 8 tygodni
PorphyriaPorfiria
Sequence analysis of the coding region of the PPOX, CPOX, HMBS and ALAD genes
PRF-NGS2500.00 do 8 tygodni
GENOMIC RESEARCH
ArtrogrypozaArtrogrypoza
Screening NGS analysis of genes responsible for clinical symptoms of arthrogryposis, based on Whole Exome Sequencing (WES).
ARTG-NGS3800.00 do 14 tygodni
Clinical exomeDiagnostyczna analiza eksomu
Whole Exome Sequencing (WES) with the subsequent analysis restricted to clinical indications.

Including an analysis of:
  • copy number variations (CNV)
  • clinically relevant variants in non-coding regions
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-14000.00 do 14 tygodni
Diagnostyczna analiza eksomu
Re-analysis of the whole exome sequencing data obtained using the EXOME-1 test (WES)
EXOME-21300.00 do uzgodnienia
Diagnostyczna analiza eksomu
MAXIMUM

Whole Exome Sequencing (WES) with the  subsequent analysis restricted to clinical indications.

Including an analysis of:
  • copy number variations (CNV),
  • clinically relevant variants in non-coding regions,
  • mitochondrial genome
Pathogenic and likely-pathogenic variants, responsible for disease symptoms, confirmed by Sanger sequencing.
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-MAX4700.00 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-TRIO11000.00 do 14 tygodni
Clinical genomeDiagnostyczna 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-19000.00 do 14 tygodni
Diagnostyczna analiza genomu
Re-analysis of the whole genome sequencing data obtained using the GENOM-1 test (WGS)
GENOM-21300.00 do uzgodnienia
Congenital immunodeficienciesWrodzone 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-NGS3800.00 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-NGS3000.00 do 8 tygodni
GenodermatosesGenodermatozy
Screening NGS analysis of genes responsible for clinical symptoms of genodermatoses (inherited skin diseases), based on Whole Exome Sequencing (WES).
GDM-NGS3800.00 do 14 tygodni
Hereditary Sensory and Motor NeuropathiesDziedziczna neuropatia czuciowa i ruchowa
CMT1X. Analysis of the coding sequence of the GJB1 gene
CMT1X-1400.00 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-MLPA990.00 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-SNGS1750.00 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-NGS3800.00 do 14 tygodni
Hypogonadism, hypogonadotropicHipogonadyzm 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-NGS3800.00 do 14 tygodni
Inborn metabolic disordersWrodzone zaburzenia metabolizmu
NGS analysis of the coding sequences of over 600 genes, performed on a basis of Whole Exome Sequencing (WES).
IMD-NGS3800.00 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-NGS3000.00 do 8 tygodni
Intellectual disabilityNiepełnosprawność intelektualna
Screening NGS analysis of coding sequences of genes responsible for clinical symptoms of intellectual disability, based on Whole Exome Sequencing (WES).
NI-NGS3800.00 do 14 tygodni
LeukodystrophyLeukodystrofia
Metachromatic leukodystrophy. NGS analysis of the coding sequences of the ARSA and PSAP genes responsible for MLD symptoms.
MLD-NGS2100.00 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-NGS3800.00 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-NGS3800.00 do 14 tygodni
Malignant hyperthermiaHipertermia złośliwa
NGS analysis of the entire coding region of the RYR1, CACNA1S and STAC3 genes.
MHI-NGS2500.00 do 8 tygodni
Mitochondrial DiseasesGenom mitochondrialny
NGS analysis of the mitochondrial genome
mtDNA-NGS1200.00 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-NGS3800.00 do 14 tygodni
MyopathyMiopatia wrodzona
NGS analysis of the entire coding sequence of the RYR1, DNM2 and NEB genes, responsible for the most common congenital myopathies.
MIOP-SNGS1700.00 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-SNGS1700.00 do 14 tygodni
MyotoniaDystrofia 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-POJ850.00 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-SNGS1700.00 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-DM21150.00 do 10 tygodni
Neuromuscular diseasesChoroby 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-NGS3800.00 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-NGS3800.00 do 14 tygodni
Newborn screeningBadanie 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).
INFANO2400.00 do 8 tygodni
Parkinson diseaseChoroba 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-NGS3800.00 do 14 tygodni
Prophylactic Whole Genome AnalysisGENOM Błękitny
Whole Genome Sequencing (WGS).
Preventive genome analysis using Next Generation Sequencing, including a diagnostic analysis and report.
GENOM-BLUE9000.00 do 14 tygodni
GENOM Złoty
Whole Genome Sequencing (WGS).
Preventive genome analysis using Next Generation Sequencing, including a diagnostic analysis and comprehensive report.
  • Extended structural variant analysis (using MLPA)

  • Biannually updated information on available therapies

  • Biannually updated clinical interpretation of detected variants

GENOM-Z9900.00 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-S6000.00 do 11 tygodni
GYNECOLOGY and INFERTILITY
ANDROGEN INSENSITIVITY SYNDROMEZespół niewrażliwości na androgeny
Sequence analysis of the coding region of the androgen receptor (AR) gene, together with a genetic sex determination
AR-SNGS1700.00 do 14 tygodni
Congenital Adrenal HyperplasiaWrodzony 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-11650.00 do 6 tygodni
Disorder of sex developmentZaburzenia 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-NGS3800.00 do 14 tygodni
Hypogonadism, hypogonadotropicHipogonadyzm 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-NGS3800.00 do 14 tygodni
InfertilityNiepłodność
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-1640.00 do 3 tygodni
Niepłodność
Analysis of microdeletions in the AZF region of the Y chromosome (analysis of 6 loci)
NP-2420.00 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-51370.00 do 5 tygodni
Lymphocyte KaryotypeBadanie kariotypu w limfocytach krwi obwodowej
Analysis of quantitative and qualitative chromosome aberrations using classical cytogenetic methods 1 3
KAR-1590.00 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-2550.00 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-11950.00 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-22750.00 do 6 tygodni
ParentoParento
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-15500.00 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-24900.00 do 12 tygodni
Parento
PARENTO OPTIMUM - for an invidual
Carrier screening for genetic conditions

Analysis of coding sequences of 152 (females) or 137 (males) genes; the test covers 60 of the most common genetic diseases in the Polish population (carrier frequency >1/200) and >50 other serious genetic onditions, including additional analysis for spinal muscular atrophy (SMA) (both genders), congenital adrenal hyperplasia (CAH) (both genders) and fragile X syndrome (FraX) (women).
PARENOPT-13900.00 do 8 tygodni
Parento
PARENTO OPTIMUM - for a couple
Carrier screening for genetic conditions

Analysis of coding sequences of 152 (females) or 137 (males) genes; the test covers 60 of the most common genetic diseases in the Polish population (carrier frequency >1/200) and >50 other serious genetic onditions, including additional analysis for spinal muscular atrophy (SMA) (both genders), congenital adrenal hyperplasia (CAH) (both genders) and fragile X syndrome (FraX) (women).
Price per person - the test must be ordered for each person in the couple.

PARENOPT-23400.00 do 8 tygodni
Premature Ovarian FailurePrzedwczesne wygasanie czynności jajników
Identification of the normal number of (CGG) triplets in the 5’UTR of the FMR1 gene - screening test
POF-1400.00 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-NGS3800.00 do 14 tygodni
Recurrent Pregnancy LossNawracające 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-1420.00 do 3 tygodni
Nawracające poronienia
Badanie aneuploidii chromosomowych w materiale z poronienia - ocena liczby poszczególnych chromosomów 1
POR-3990.00 do 5 tygodni
Nawracające poronienia
Identyfication of the M2 haplotype in the promotor region of the ANXA5 gene.
POR-4395.00 do 3 tygodni
Nawracające poronienia
aCGH-31720.00 do 6 tygodni
Sex DeterminationIdentyfikacja płci genetycznej
Analysis of genetic markers specific to the AMGX, AMGY and SRY genes
SRY-1300.00 do 3 tygodni
Sex determination of miscarriage materialIdentyfikacja 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-1400.00 do 3 tygodni
METABOLIC DISEASES
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCYDeficyt palmitoilotransferazy karnitynowej typu II
Identification of the p.Ser113Leu mutation in the CPT2 gene
CPT2-1450.00 do 4 tygodni
CystinosisCystynoza
Identification of the homozygous 57kb deletion in the CTNS gene - verification of the clinical diagnosis of the disease
CTNS-1600.00 do 3 tygodni
DiabetesCukrzyca
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-NGS3000.00 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-NGS2500.00 do 8 tygodni
Fabry diseaseChoroba FABRY`ego
Sequence analysis of the whole coding region of the GLA gene
GLA-31320.00 do 6 tygodni
GalactosemiaGalaktozemia
Identification of the two most common mutations p.Gln188Arg, p.Lys285Asn and other mutations in exons 6-9 of the GALT gene
GALT-1600.00 do 3 tygodni
Gaucher`s DiseaseChoroba 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-2730.00 do 3 tygodni
Hemolytic anemiaNiedokrwistość hemolityczna
Haemolytic anaemia/glucose-6-phosphate dehydrogenase deficiency. NGS analysis of the entire coding sequence of the G6PD gene.
G6PD-NGS2100.00 do 8 tygodni
Hereditary hypophosphatemic ricketsKrzywica 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-NGS3000.00 do 8 tygodni
Inborn metabolic disordersWrodzone zaburzenia metabolizmu
NGS analysis of the coding sequences of over 600 genes, performed on a basis of Whole Exome Sequencing (WES).
IMD-NGS3800.00 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-NGS3000.00 do 8 tygodni
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencyDeficyt dehydrogenazy długołańcuchowych kwasów tłuszczowych (LCHAD)
Identification of the p.Glu510Gln mutation in the HADHA gene, frequent in Polish patients with LCHAD deficiency
LCHAD-1450.00 do 3 tygodni
McCune-Albright syndromeZespół 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-1450.00 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-1450.00 do 3 tygodni
Mitochondrial DiseasesGenom mitochondrialny
NGS analysis of the mitochondrial genome
mtDNA-NGS1200.00 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-NGS3800.00 do 14 tygodni
MucopolysaccharidosisMukopolisacharydoza
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-NGS2500.00 do 8 tygodni
Neuronal ceroid lipofuscinosisCeroidolipofuscynoza
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
CLN2-1360.00 do 3 tygodni
Ceroidolipofuscynoza
CLN3 disease, classic juvenile. Identification of the most frequent CLN3 deletion
CLN3-1600.00 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-NGS3000.00 do 8 tygodni
Newborn screeningBadanie 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).
INFANO2400.00 do 8 tygodni
Nonketotic HyperglycinemiaNieketotyczna hiperglicynemia
Sequence analysis of the coding region of the GLDC, AMT, GCSH genes
NHG-NGS2500.00 do 8 tygodni
PhenylketonuriaFenyloketonuria
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-1600.00 do 3 tygodni
Pompe diseaseChoroba Pompego
NGS analysis of the coding region of the GAA gene
GAA-NGS2100.00 do 8 tygodni
Smith-Lemli-Opitz SyndromeZespół 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-1700.00 do 4 tygodni
Surfactant deficiencyNiedobór surfaktantu
Screening NGS analysis of SFTPB, SFTPC and ABCA3 genes
SURF-NGS2500.00 do 8 tygodni
Trimethylaminuria (Fish Odor Syndrome)Trimetyloaminuria (zespół odoru rybnego)
Sequence analysis of the coding region of the FMO3 gene (NGS)
FMO3-NGS2100.00 do 8 tygodni
NEUROLOGY
AceruloplasminemiaAceruloplazminemia
NGS analysis of the CP gene
CP-NGS2100.00 do 8 tygodni
AdrenoleucodystrophyAdrenoleukodystrofia
Adrenoleukodystrophy. Sequence analysis of the coding region of the ABCD1 gene
ALD-11900.00 do 6 tygodni
Alexander DiseaseChoroba Aleksandra
Analiza sekwencji kodującej genu GFAP z wykorzystaniem metod sekwencjonowania nowej generacji
ALXD-NGS2100.00 do 8 tygodni
Alzheimer DiseaseChoroba 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-NGS3000.00 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-NGS2800.00 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-1860.00 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-SNGS1700.00 do 8 tygodni
Angelman SyndromeZespół Angelmana
Sequence analysis of exons 7-16 of the UBE3A gene - supplementary to the ANGEL-1 test
ANGEL-21200.00 do 8 tygodni
Zespół Angelmana
Analysis of a methylation pattern and deletions in the 15q11-q13 region (MLPA)
ANGEL-1800.00 do 8 tygodni
AtaxiaAtaksja
First-tier testing for spinal cerebellar ataxia (SCA), including SCA1, SCA2 i SCA3 1
SCA-11450.00 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-NGS3800.00 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-NGS3800.00 do 14 tygodni
Zespół CANVAS

Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome. Identification of biallelic RFC1 (AAGGG) repeat expansion.

CANVAS1550.00 do 12 tygodni
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy - CADASILMózgowa arteriopatia z podkorowymi zawałami i leukoencefalopatią - CADASIL
NGS analysis of the NOTCH3 gene.
NOTCH3-NGS2100.00 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-NGS2500.00 do 8 tygodni
Congenital central hypoventilation syndrome, CCHSWrodzona ośrodkowa hipowentylacja (Klątwa Ondyny)
Sequence analysis of the coding region of the PHOX2B gene
PHOX2B-11050.00 do 4 tygodni
EpilepsyPadaczka napadów nieświadomości
Childhood absence epilepsy (CAE). NGS analysis of 6 genes related to CAE: GABRG2, GABRA1, SLC2A1, JRK, GABRB3 and CACNA1H
CAE-NGS2500.00 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-NGS2500.00 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-NGS3800.00 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-1990.00 do 8 tygodni
Fragile X SyndromeZespół łamliwego chromosomu X
Analysis of premutation and dynamic mutation in the FMR1 gene - supplementary to FRAX-3 test 1
FRAX-2990.00 do 10 tygodni
Zespół łamliwego chromosomu X
Identification of the normal number of (CGG) triplets in the FMR1 gene - a screening test
FRAX-3400.00 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-NGS2500.00 do 8 tygodni
GenodermatosesGenodermatozy
Screening NGS analysis of genes responsible for clinical symptoms of genodermatoses (inherited skin diseases), based on Whole Exome Sequencing (WES).
GDM-NGS3800.00 do 14 tygodni
Hereditary Sensory and Motor NeuropathiesDziedziczna neuropatia czuciowa i ruchowa
CMT1X. Analysis of the coding sequence of the GJB1 gene
CMT1X-1400.00 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-MLPA990.00 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-SNGS1750.00 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-NGS3800.00 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-MLPA990.00 do 6 tygodni
Dziedziczna paraplegia spastyczna (HSP)
NGS screening of SPAST, ATL1, KIF5A, REEP1, CYP7B1, SPG11 and KIF1A genes
SPG-NGS12500.00 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-NGS23800.00 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-NGS33800.00 do 14 tygodni
Dziedziczna paraplegia spastyczna (HSP)
Identification of large deletions and duplications in the SPG7 and REEP1 genes using the MLPA method
SPG7-MLPA990.00 do 8 tygodni
HomocystinuriaHomocystynuria
NGS analysis of the entire coding sequence of the CBS gene
CBS-NGS2100.00 do 8 tygodni
Intellectual disabilityNiepełnosprawność intelektualna
Screening NGS analysis of coding sequences of genes responsible for clinical symptoms of intellectual disability, based on Whole Exome Sequencing (WES).
NI-NGS3800.00 do 14 tygodni
Kabuki syndromeZespół Kabuki
NGS analysis of the entire coding sequence of the KMT2D and KDM6A genes.
KABUKI-NGS2100.00 do 8 tygodni
Krabbe DiseaseChoroba 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-1390.00 do 3 tygodni
Choroba Krabbego
NGS analysis of the GALC gene.
GALC-NGS2100.00 do 8 tygodni
LeukodystrophyLeukodystrofia
Metachromatic leukodystrophy. NGS analysis of the coding sequences of the ARSA and PSAP genes responsible for MLD symptoms.
MLD-NGS2100.00 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-NGS3800.00 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-NGS3800.00 do 14 tygodni
Mitochondrial DiseasesGenom mitochondrialny
NGS analysis of the mitochondrial genome
mtDNA-NGS1200.00 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-NGS3800.00 do 14 tygodni
Muscular DystrophyDystrofia 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
CAPN3-1550.00 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-MLPA990.00 do 6 tygodni
Dystrofia mięśniowa Duchenne'a/Beckera (DMD/BMD)
Duchenne/Becker muscular dystrophy (DMD/BMD). NGS analysis of DMD gene.
DMD-NGS1600.00 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-NGS3800.00 do 14 tygodni
Dystrofia mięśniowa
Limb-Girdle Muscular Dystrophy type 2A (LGMD2A). NGS analysis of the CAPN3 gene.
CAPN3-NGS1600.00 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-SNGS1750.00 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-SNGS1700.00 do 14 tygodni
MyopathyMiopatia wrodzona
NGS analysis of the entire coding sequence of the RYR1, DNM2 and NEB genes, responsible for the most common congenital myopathies.
MIOP-SNGS1700.00 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-SNGS1700.00 do 14 tygodni
MyotoniaDystrofia 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-POJ850.00 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-SNGS1700.00 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-DM21150.00 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-NGS2500.00 do 8 tygodni
NeurofibromatosisNeurofibromatoza
Neurofibromatosis type I (von Recklinghausen`s Disease). Identification of large deletions and insertions in the NF1 gene using MLPA method
NF1-MLPA990.00 do 6 tygodni
Neurofibromatoza
Neurofibromatosis type I, II and Legius syndrome. NGS analysis of NF1, NF2 and SPRED1 genes.
NF-NGS1900.00 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-MLPA990.00 do 8 tygodni
Neuronal ceroid lipofuscinosisCeroidolipofuscynoza
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
CLN2-1360.00 do 3 tygodni
Ceroidolipofuscynoza
CLN3 disease, classic juvenile. Identification of the most frequent CLN3 deletion
CLN3-1600.00 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-NGS3000.00 do 8 tygodni
Oculopharyngeal Muscular DystrophyDystrofia oczno-gardłowa (OPMD)
Screening for the (GCN)n expansion in the exon 1 of the PABPN1 gene
PABPN1-1490.00 do 4 tygodni
Parkinson diseaseChoroba 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-NGS3800.00 do 14 tygodni
Pompe diseaseChoroba Pompego
NGS analysis of the coding region of the GAA gene
GAA-NGS2100.00 do 8 tygodni
Prader-Willi SyndromeZespół Prader-Willi
Analysis of methylation pattern and deletions in the 15q11-q13 region1
PWS-1800.00 do 8 tygodni
Refsum DiseaseChoroba Refsuma
Screening NGS analysis of PEX7 and PHYH genes.
REFS-NGS2100.00 do 8 tygodni
Rett SyndromeZespół Retta
Sequence analysis of the entire coding region of the MECP2 gene
RETT-1600.00 do 3 tygodni
Zespół Retta
Screening NGS analysis of the MECP2, CDKL5, FOXG1 and UBE3A genes.
RETT-NGS2500.00 do 8 tygodni
Zespół Retta
Analysis of  large deletions/duplications in the MECP2 gene using the MLPA method 1
RETT-MLPA990.00 do 8 tygodni
Rubinstein-Taybi SyndromeZespół Rubinsteina-Taybiego
Analysis of  large deletions/duplications in the CREBBP gene using the MLPA method 1
RSTS-MLPA990.00 do uzgodnienia
Segawa syndromeDystonia wrażliwa na dopaminę, zespół Segawy
NGS analysis of GCH1 (GTPCH1) gene.
DRD-NGS2100.00 do 8 tygodni
Smith-Lemli-Opitz SyndromeZespół 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-1700.00 do 4 tygodni
Sotos syndromeZespół Sotosa
NGS analysis of analysis of the NSD1 gene.
NSD1-NGS2100.00 do 8 tygodni
Spinal Muscular AtrophyRdzeniowy zanik mięśni
Identification of the exon 7 and 8 deletion in the SMN1 gene - carrier testing and SMN1/SMN2 copy number assessment.
SMA-2710.00 do 6 tygodni
Rdzeniowy zanik mięśni
Sequence analysis of the coding region of the SMN1 gene 1
SMA-3930.00 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-1400.00 do 3 tygodni
Tuberous sclerosisStwardnienie guzowate
Screening NGS analysis of TSC1 and TSC2 genes.
TSC-NGS2100.00 do 8 tygodni
ONCOLOGY
Bloom SyndromeZespół Blooma
NGS analysis of the BLM gene.
BLM-NGS2100.00 do 8 tygodni
CHEK2-related breast/ prostate/ colon/thyroidy familial cancerRak 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
CHEK2-1520.00 do 4 tygodni
Diffuse Gastric CancerNowotwór żołądka - postać rozlana
NGS analysis of the entire coding sequence of the CDH1 gene.
CDH-NGS2100.00 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-1975.00 do 4 tygodni
Hereditary breast/ovarian cancerRak 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))
BRCA1-1600.00 do 3 tygodni
Rak piersi/jajnika dziedziczny
Analysis of large deletions/duplications in the BRCA1 or BRCA2 genes using MLPA 1
BRCA-MLPA900.00 do 8 tygodni
Inherited polyposesDziedziczna 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-1600.00 do 4 tygodni
Dziedziczna polipowatość jelita grubego
Adenomatous polyposis (FAP, MAP, juvenile). Screening NGS analysis of APC, MUTYH, BMPR1A and SMAD4 genes
POLYP-NGS2500.00 do 8 tygodni
Li-Fraumeni SyndromeZespół Li-Fraumeni
Sequence analysis of the TP53 gene
TP53-NGS2100.00 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-NGS2500.00 do 8 tygodni
Multiple Endocrine NeoplasiaMnoga 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-1975.00 do 4 tygodni
Mnoga gruczolakowatość wewnątrzwydzielnicza
Multiple endocrine neoplasia type 1. Sequence analysis of the coding region of the MEN1 gene
MEN-21980.00 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-NGS2100.00 do 8 tygodni
Multiple osteochondromasMnogie kostniakorzęstniaki
Sequence analysis of the coding region of the EXT1 and EXT2 genes
MO-NGS2100.00 do 8 tygodni
NeurofibromatosisNeurofibromatoza
Neurofibromatosis type I (von Recklinghausen`s Disease). Identification of large deletions and insertions in the NF1 gene using MLPA method
NF1-MLPA990.00 do 6 tygodni
Neurofibromatoza
Neurofibromatosis type I, II and Legius syndrome. NGS analysis of NF1, NF2 and SPRED1 genes.
NF-NGS1900.00 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-MLPA990.00 do 8 tygodni
Nijmegen breakage syndromeZespół Nijmegen
Identification of the most frequent c.657_661del5 mutation and other mutations in the exon 6 of the NBN gene
NBS-1400.00 do 4 tygodni
Peutz-Jeghers syndromeZespół Peutz-Jeghersa
Screening NGS analysis of the STK11 gene.
STK11-NGS2100.00 do 8 tygodni
RetinoblastomaSiatkówczak (Retinoblastoma)
Screening NGS analysis of the RB1 gene.
RB1-NGS2100.00 do 8 tygodni
Siatkówczak (Retinoblastoma)
Analysis of large deletions/duplications in the RB1 gene using MLPA 
RB1-MLPA990.00 do 8 tygodni
Screening NGS panel for hereditary cancersPakiet 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-NGS2500.00 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-NGS2600.00 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-NGS2500.00 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-NGS2500.00 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-NGS2600.00 do 8 tygodni
Dziedziczny rak jajnika
NGS sequence analysis of the entire coding sequence of  BRCA1BRCA2
TP53STK11PALB2BARD1BRIP1RAD51CRAD51DMLH1MSH2MSH6, EPCAM and PMS2 genes.
OVA-NGS2300.00 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-NGS2500.00 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-NGS3000.00 do 8 tygodni
Dziedziczny rak piersi
NGS analysis of the entire coding sequence  of ATMBRCA1BRCA2
CHEK2PALB2PTENRAD51CRAD51DSTK11 and TP53  genes, together with the ATRIP c.1152_1155del p.(Gly385Ter) risk variant.
BREAST-NGS2300.00 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-MAX2800.00 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-NGS2500.00 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-NGS2100.00 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-NGS2500.00 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-1650.00 do 3 tygodni
Zespół von Hippla-Lindaua (naczyniakowatość siatkówkowo-móżdżkowa)
Analysis of large deletions/duplications in the VHL gene using MLPA 1
VHL-MLPA990.00 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-PRS600.00 do 6 tygodni
Alagille syndromeZespół Alagille`a
NGS analysis of JAG1 and NOTCH2 genes
ALGS-NGS2100.00 do 8 tygodni
Alport syndromeZespół Alporta
NGS analysis of COL4A3, COL4A4 and COL4A5 genes.
AS-NGS2500.00 do 8 tygodni
Corneal dystrophyDystrofia rogówki
Corneal dystrophy. NGS analysis of 14 genes: AGBL1, CHST6, COL8A2, DCN, GRHL2, KRT12, KRT3, OVOL2, SLC4A11, TACSTD2, TGFBI, UBIAD1, VSX1 i ZEB1.
CORNEA-NGS2500.00 do 8 tygodni
Developmental anomalies affecting the eyeWady 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-NGS2600.00 do 8 tygodni
HomocystinuriaHomocystynuria
NGS analysis of the entire coding sequence of the CBS gene
CBS-NGS2100.00 do 8 tygodni
Marfan SyndromeZespół Marfana
NGS analysis of the FBN1 gene.
FBN1-NGS2100.00 do 8 tygodni
Mitochondrial DiseasesGenom mitochondrialny
NGS analysis of the mitochondrial genome
mtDNA-NGS1200.00 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-NGS3800.00 do 14 tygodni
NGS analysis of 24 genes related to albinism and hypopigmentationAlbinizmy 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-NGS2500.00 do 8 tygodni
Optic atrophyZanik 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-NGS2400.00 do 8 tygodni
Refsum DiseaseChoroba Refsuma
Screening NGS analysis of PEX7 and PHYH genes.
REFS-NGS2100.00 do 8 tygodni
Retinal dystrophyDziedziczna 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-NGS3200.00 do 12 tygodni
Choroba Stargardta
Type I Stargardt Disease. NGS sequence and CNV analysis of the ABCA4 gene.
STARG-NGS2100.00 do 8 tygodni
Sticler syndromeZespół Sticklera
Hereditary progressive arthro-ophthalmopathy. NGS analysis of the entire coding sequence of the COL2A1, COL11A1, COL11A2, COL9A1, COL9A2 and COL9A3 genes.
STS-NGS2500.00 do 8 tygodni
ORTHOPAEDICS
AchondroplasiaAchondroplazja
Identification of the p.Gly380Arg mutation and other mutations in exon 10 fragment of the FGFR3 gene
ACH-1330.00 do 3 tygodni
Alagille syndromeZespół Alagille`a
NGS analysis of JAG1 and NOTCH2 genes
ALGS-NGS2100.00 do 8 tygodni
Alport syndromeZespół Alporta
NGS analysis of COL4A3, COL4A4 and COL4A5 genes.
AS-NGS2500.00 do 8 tygodni
Apert SyndromeZespół Aperta
Identification of p.Ser252Trp, p.Pro253Arg, c.755_756delCGinsTT and other mutations in exon 8 of the FGFR2 gene
APS-1420.00 do 3 tygodni
ArtrogrypozaArtrogrypoza
Screening NGS analysis of genes responsible for clinical symptoms of arthrogryposis, based on Whole Exome Sequencing (WES).
ARTG-NGS3800.00 do 14 tygodni
Beckwith-Wiedemann SyndromeZespół Beckwitha-Wiedemanna
Analysis of the methylation pattern and identification of deletions/duplications in the 11p15 locus  using MS-MLPA 1
BWS-MLPA990.00 do 8 tygodni
Coffin-Lowry SyndromeZespół Coffina-Lowry`ego (Coffin-Lowry)
NGS analysis of the entire coding sequence of the RPS6KA3 gen.
CLS-NGS2100.00 do 8 tygodni
Cornelai de Lange SyndromeZespół Cornelii de Lange
NGS analysis of the entire coding sequence of the HDAC8, NIPBL, RAD21, SMC1A and SMC3 genes.
CDLS-NGS2500.00 do 8 tygodni
CraniosynostosisKraniosynostoza
Screening NGS analysis of 74 genes, responsible for clinical symptoms of craniosynostosis, for prenatal and postnatal testing
CRANIO-NGS3000.00 do 8 tygodni
Crouzon SyndromeZespół Crouzona
Sequence analysis of exons 8 and 10 of the FGFR2 gene
CROUZ-1660.00 do 3 tygodni
Ehlers-Danlos syndromeZespół 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-NGS2500.00 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-MLPA900.00 do 8 tygodni
Zespół Ehlersa-Danlosa
Heritable connective tissue disorders. NGS analysis of  60 genes, responsible for clinical symptoms of  Ehlers-Danlos syndrome.
EDS3-NGS3000.00 do 8 tygodni
Hereditary hypophosphatemic ricketsKrzywica 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-NGS3000.00 do 8 tygodni
HomocystinuriaHomocystynuria
NGS analysis of the entire coding sequence of the CBS gene
CBS-NGS2100.00 do 8 tygodni
HypochondroplasiaHypochondroplazja
Identification of the common p.Asn540Lys mutation and other mutations in the exon 13 of the FGFR3 gene
HYPOCH-1450.00 do 3 tygodni
Klippel-Feil syndromeZespół Klippel-Feila
NGS analysis of GDF6, GDF3 and MEOX1 genes.
KFS-NGS2500.00 do 8 tygodni
Marfan SyndromeZespół Marfana
NGS analysis of the FBN1 gene.
FBN1-NGS2100.00 do 8 tygodni
McCune-Albright syndromeZespół 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-1450.00 do 3 tygodni
Muenke SyndromeZespół Muenke
Identification of the p.Pro250Arg mutation in the exon 7 of the FGFR3 gene
MUE-1400.00 do 3 tygodni
Multiple osteochondromasMnogie kostniakorzęstniaki
Sequence analysis of the coding region of the EXT1 and EXT2 genes
MO-NGS2100.00 do 8 tygodni
Osteogenesis ImperfectaWrodzona łamliwość kości/ Osteogenesis imperfecta
NGS analysis of the entire coding sequence of the COL1A1 and COL1A2 genes.
OI-NGS2100.00 do 8 tygodni
Pfeiffer SyndromeZespół Pfeiffera
Identification of the most frequent p.Pro252Arg mutation in exon 7 of the FGFR1 gene
PFE-1400.00 do 3 tygodni
Rubinstein-Taybi SyndromeZespół Rubinsteina-Taybiego
Analysis of  large deletions/duplications in the CREBBP gene using the MLPA method 1
RSTS-MLPA990.00 do uzgodnienia
Silver-Russell SyndromeZespół Silvera-Russella
Analysis of the methylation pattern and identification of deletions/duplications in the 11p15 locus using MS-MLPA 1
SRS1-MLPA990.00 do 8 tygodni
Skeletal dysplasiasDysplazje szkieletowe
Ellisa-van Creveld Syndrome (EVCS). Analysis of the entire coding sequences of the  EVC and EVC2 genes.
EVCS-NGS2100.00 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-NGS2500.00 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-NGS2500.00 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-NGS2500.00 do 6 tygodni
Dysplazje szkieletowe
Frontal-nasal dysplasia (FND). NGS analysis of the entire coding sequence of the ALX1, ALX3 and ALX4 genes.
FND-NGS2500.00 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-NGS3800.00 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-NGS3800.00 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-NGS3800.00 do 14 tygodni
Sticler syndromeZespół Sticklera
Hereditary progressive arthro-ophthalmopathy. NGS analysis of the entire coding sequence of the COL2A1, COL11A1, COL11A2, COL9A1, COL9A2 and COL9A3 genes.
STS-NGS2500.00 do 8 tygodni
Thanatophoric dysplasia type IDysplazja 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-1660.00 do 3 tygodni
OTHER
Additional servicesAnaliza 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-7350.00 do uzgodnienia
Analiza pojedynczego amplikonu
Any marker or mutation from the GENOMED offer, except MLPA
INNE-1350.00 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-4650.00 do uzgodnienia
Izolacja i bankowanie DNA
Biobanking (up to 5 years).
INNE-5100.00 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-6600.00 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-NGS1800.00 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-1400.00 do 3 tygodni
Polimorfizm ACE I/D

Analysis of the ACE I/D genetic polymorphism.

ACE-1390.00 do 3 tygodni
CCR5 genotyping - prognosis of susceptibility to HIV infectionGenotypowanie CCR5 - prognozowanie wrażliwości na zakażenie wirusem HIV
Identification of the c.554_585del32 variant in the CCR5 gene
CCR5-1400.00 do 3 tygodni
Fanconi anemiaAnemia 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-NGS2500.00 do 8 tygodni
Lymphocyte KaryotypeBadanie kariotypu w limfocytach krwi obwodowej
Analysis of quantitative and qualitative chromosome aberrations using classical cytogenetic methods 1 3
KAR-1590.00 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-2550.00 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-11950.00 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-22750.00 do 6 tygodni
Newborn screeningBadanie 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).
INFANO2400.00 do 8 tygodni
Sex DeterminationIdentyfikacja płci genetycznej
Analysis of genetic markers specific to the AMGX, AMGY and SRY genes
SRY-1300.00 do 3 tygodni
Sex determination of miscarriage materialIdentyfikacja 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-1400.00 do 3 tygodni
PHARMACOGENETICS
Candersartan, Irbesartan, Losartan, Warfarin - activity of the CYP2C9Ocena aktywności cytochromu P450 2C9
Identification of the CYP2C9*2 and *3 variants
CYP2C9-1660.00 do 4 tygodni
Carvedilol, Codeine, Metoprolol, Propranolol and Timolol - activity of the CYP2D6Ocena aktywności cytochromu P450 2D6
Identification of the CYP2D6*4 and *3 variants
CYP2D6-1660.00 do 4 tygodni
Ocena aktywności cytochromu P450 2D6
Copy number assessment of the CYP2D6 gene by MLPA
CYP2D6-MLPA1120.00 do 6 tygodni
Clopidogrel - analysis of the cytochrome CYP2C19 activityOcena aktywności cytochromu P450 2C19
Identification of CYP2C19*2, *3, *6 and *17 haplotypes.
CYP2C19-1660.00 do 4 tygodni
Malignant hyperthermiaHipertermia złośliwa
NGS analysis of the entire coding region of the RYR1, CACNA1S and STAC3 genes.
MHI-NGS2500.00 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