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
The genetic tests offered by Genomed - June 2019
Disease Test description Test
code
Price
[EUR]
Turnaround
time
AUDIOLOGY
Alport syndromeNGS analysis of COL4A3, COL4A4 and COL4A5 genes. 4 6AS-NGS595.00up to 8 weeks
Deafness and Hereditary Hearing LossNGS analysis of over 60 genes (custom panel)  4 6DFN-NGS786.00up to 14 weeks
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 4 6GJB2-289.00up to 3 weeks
Deletion/duplication analysis of the GJB2, GJB3, GJB6, WFS1 and POU3F4 genes 6GJB2-MLPA214.00up to 6 weeks
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 4 6GJB6-143.00up to 3 weeks
ENDOCRINOLOGIC DISEASES
Congenital Adrenal HyperplasiaSequence analysis of the coding region of the CYP21A2 gene and Identification of deletions i duplications in the CYP21A2 gene using MLPA method 6WPN-1378.00up to 4 weeks
Thyroid Hormone ResistanceSequence analysis of exons 7-10 of the THRB gene 4 6THRB-1157.00up to 3 weeks
METABOLIC DISEASES
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCYIdentification of the p.Ser113Leu mutation in the CPT2 gene 4 6CPT2-171.00up to 4 weeks
CystinosisIdentification of homozygous 57kb deletion in the CTNS gene - clinical outcome verification 4 6CTNS-1143.00up to 3 weeks
GalactosemiaIdentification of the two most common mutations p.Gln188Arg, p.Lys285Asn and other mutations in exons 6-9 of the GALT gene  4 6GALT-1107.00up to 3 weeks
Gaucher`s DiseaseIdentification 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 4 6GD-2157.00up to 3 weeks
Inborn metabolic disordersNGS analysis of over 150 genes (custom NGS panel) 4 6IMD-NGS833.00up to 14 weeks
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencyIdentification of the p.Glu510Gln mutation in the HADHA gene, frequent in Polish patients with LCHAD deficiency 4 6LCHAD-171.00up to 3 weeks
McCune-Albright syndrome Identification of the p.Arg201His, p.Arg201Cys and other mutations in exons 7-9 of the GNAS gene in the affected tissue 4 6GNAS-191.00up to 3 weeks
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 4 6MCAD-196.00up to 3 weeks
Mitochondrial DiseasesNGS analysis of the mitochondrial genome 6mtDNA-NGS238.00up to 8 weeks
MucopolysaccharidosisMucopolysaccharidosis 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. 4 6MPS-NGS619.00up to 8 weeks
Neuronal ceroid lipofuscinosisCLN2 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  4 6CLN2-177.00up to 3 weeks
CLN3 disease, classic juvenile. Identification of the most frequent CLN3 deletion 4 6CLN3-1114.00up to 5 weeks
Niemann-Pick Disease type A, B and CNGS analysis of the coding region the NPC1, NPC2 and SMPD1 genes 4 6NPC-NGS667.00up to 8 weeks
PhenylketonuriaIdentification 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 4 6PAH-1107.00up to 3 weeks
Pompe diseaseNGS analysis of the coding region of the GAA gene 4 6GAA-NGS529.00up to 8 weeks
Smith-Lemli-Opitz SyndromeIdentification 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 4 6SLOS-1129.00up to 4 weeks
Trimethylaminuria (Fish Odor Syndrome)Sequence analysis of the coding region of the FMO3 gene 4 6FMO3-1432.00up to 4 weeks
DERMATOLOGY
BRAF Gene TestingIdentification of the p.Val600Glu, p.Val600Lys, p.Val600Arg, p.Val600Met, p.Val600Gly, p.Val600Asp and other mutations in exon 15 of the BRAF gene - analysis for targeted therapy 2BRAF-1114.00up to 4 weeks
Clouston syndrome (Clouston Hidrotic Ectodermal Dysplasia)Identification of common p.Gly11Arg, p.Val37Glu, p.Asp50Asn and p.Ala88Val mutations in the GJB6 gene 4 6CLOU-179.00up to 3 weeks
Ichthyosis simplex/Atopic DermatitisIdentification of the p.Arg501*, c.2282_2285del4 and other mutations in the exon 3 of the FLG gene 1 4 6FLG-1143.00up to 6 weeks
Job Syndrome (Hyper-IgE Syndrome)Screening NGS analysis of the STAT3 gene. 4 6STAT3-NGS595.00up to 8 weeks
McCune-Albright syndrome Identification of the p.Arg201His, p.Arg201Cys and other mutations in exons 7-9 of the GNAS gene in the affected tissue 4 6GNAS-191.00up to 3 weeks
Netherton SyndromeScreening NGS analysis of the SPINK5 gene. 4 6SPINK5-NGS536.00up to 8 weeks
NeurofibromatosisNeurofibromatosis type I, II and Legius syndrome. NGS analysis of NF1, NF2 and SPRED1 genes. 4 6NF-NGS595.00up to 8 weeks
Neurofibromatosis type I (von Recklinghausen`s Disease). Identification of large deletions and insertions in the NF1 gene using MLPA method 6NF1-MLPA214.00up to 6 weeks
Neurofibromatosis type II. Identification of large deletions and insertions in the NF2 gene using MLPA method gene using MLPA method 1 6NF2-MLPA236.00up to 8 weeks
PsoriasisIdentification of the HLA-Cw6 haplotype1 4 6HLA-167.00up to 4 weeks
PHARMACOGENETICS
BRAF Gene TestingIdentification of the p.Val600Glu, p.Val600Lys, p.Val600Arg, p.Val600Met, p.Val600Gly, p.Val600Asp and other mutations in exon 15 of the BRAF gene - analysis for targeted therapy 2BRAF-1114.00up to 4 weeks
Candersartan, Irbesartan, Losartan, Warfarin - activity of the CYP2C9Identification of the CYP2C9*2 and *3 variants 4 6CYP2C9-1157.00up to 5 weeks
Carvedilol, Codeine, Metoprolol, Propranolol and Timolol - activity of the CYP2D6 Identification of the CYP2D6*4 variant 4 6CYP2D6-1100.00up to 4 weeks
Copy number assessment of the CYP2D6 gene by MLPA 6CYP2D6-MLPA243.00up to 6 weeks
Clopidogrel - analysis of the cytochrome CYP2C19 activityIdentification of the CYP2C19*2, *4 and *8 variants.  4 6CYP2C19-1157.00up to 4 weeks
EGFR Gene TestingSequence analysis of selected EGFR gene regions (exons 20-23 (legacy No 18-21) for targeted therapy  2EGFR-1186.00up to 3 weeks
KRAS gene analysisSequence analysis of exon 2-4 of the KRAS gene prior to targeted therapy in colorectal cancer (identification of codon 12 and 13 mutations)  2KRAS-1171.00up to 4 weeks
Screening NGS panel for somatic variants in breast cancerScreening NGS panel for somatic variants in breast cancer. For patients with familial cancer or breast cancer patients - NGS analysis of the whole coding sequence of 93 breast cancer-related genes. The test also allows for a liquid biopsy-based cancer profiling.  2 6VIP ONKO-SOMATIC714.00contact us
Warfarin - identification of genotype related to VKOR enzymatic activityIdentification of the rs9934438:C>T (1173C>T) variant in the VKORC1 gene 4 6VKORC1-1100.00up to 4 weeks
GASTROENTEROLOGY
Alpha1-Antitrypsin DeficiencyIdentification of the p.Glu288Val (S allele, E264V) and p.Glu366Lys (Z allele, E342K) mutations in the SERPINA1 gene  4 6AAT-196.00up to 3 weeks
Sequence analysis of the coding region of the SERPINA1 gene 4 6AAT-3161.00up to 4 weeks
Coeliac diseaseIdentification of the HLA-DQ2 and DQ8 haplotypes1 4 6CELIAKIA-195.00up to 4 weeks
Crigler-Najjar SyndromeSequence analysis of the coding region and the promoter region fragment of the UGT1A1 gene 4 6CRIG-1263.00up to 4 weeks
Diffuse Gastric Cancer NGS analysis of the CDH1 gene. 4 6CDH-NGS530.00up to 8 weeks
FructosemiaIdentification of the p.Ala150Pro and p.Ala175Asp mutations and other located in the exon 5 of the ALDOB gene 4 6ALDOB-186.00up to 3 weeks
Gilbert SyndromeAnalysis of the number of repeats (TA)n in the UGT1A1 gene promoter 4 5 6UGT-154.00up to 3 weeks
HaemochromatosisIdentification of the most frequent mutations p.Cys282Tyr and p.His63Asp together with other mutations in exons 2 and 4 of the HFE gene 4 6HFE-196.00up to 3 weeks
NGS analysis of HFE, HFE2, HAMP, TFR2 and SLC40A1 genes. 4 6HFE-NGS619.00up to 8 weeks
Inherited polyposesFamilial 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 4 6APC-1125.00up to 4 weeks
Adenomatous polyposis (FAP, MAP, juvenile). Screening NGS analysis of APC, MUTYH, BMPR1A and SMAD4 genes 4 6POLYPOSIS-NGS595.00up to 8 weeks
KRAS gene analysisSequence analysis of exon 2-4 of the KRAS gene prior to targeted therapy in colorectal cancer (identification of codon 12 and 13 mutations)  2KRAS-1171.00up to 4 weeks
Lactase Persistence (Adult-Type Hypolactasia)Analysis of the c.-13907C>T(-13910C>T) variant in the LCT gene 4 5 6LCT-171.00up to 3 weeks
Lynch syndrome, hereditary non-polyposis colorectal cancer (HNPCC)NGS analysis of MLH1, MSH2, MSH6 and PMS2 genes 4 6HNPCC-NGS595.00up to 8 weeks
Pancreatitis (acute and chronic)Identification of the most frequent mutations in the PRSS1, SPINK1 and CFTR genes responsible for pancreatitis (p.Arg122His, p.Arg122Cys, p.Ala16Val, p.Asn29Ile in PRSS1, p.Asn34Ser, c.194+2T>C (IVS3+2T>C) in SPINK1 as well as p.Phe508del (F508del), p.Gly542* (G542X), p.Gly551Asp (G551D), c.54-5940_273+10250del21kb (dele2,3(21kb)) and the c.1210-12T[5] (IVS8 (T)5) variant in the CFTR gene) 4 6ZT-2175.00up to 4 weeks
NGS analysis of the coding sequence of disease-related genes: PRSS1, SPINK1, CFTR, CTRC, CASR and CPA1 4 6ZT-NGS595.00up to 8 weeks
Wilson DiseaseIdentification of the most frequent mutation p.His1069Gln and other mutations in exon 14 of the ATP7B gene 4 6WD-161.00up to 3 weeks
NGS analysis of the ATP7B gene. 4 6WD-NGS536.00up to 8 weeks
GYNECOLOGY and INFERTILITY
ANDROGEN INSENSITIVITY SYNDROMESequence analysis of the coding region of the androgen receptor (AR) gene, together with a genetic sex determination 4 6AR-1400.00up to 4 weeks
Congenital Adrenal HyperplasiaSequence analysis of the coding region of the CYP21A2 gene and Identification of deletions i duplications in the CYP21A2 gene using MLPA method 6WPN-1378.00up to 4 weeks
InfertilityIdentification 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)) 4 6NP-1129.00up to 3 weeks
Analysis of microdeletions in the AZF region of the Y chromosome (analysis of 6 loci) 4 6NP-289.00up to 3 weeks
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 3 6NP-5286.00up to 4 weeks
Lymphocyte KaryotypeAnalysis of quantitative and qualitative chromosome aberrations using classical cytogenetic methods 1 3
KAR-1117.00up to 4 weeks
Analysis of quantitative and qualitative chromosome aberrations using classical cytogenetic methods for both parents 1 3
KAR-2229.00up to 4 weeks
Molecular karyotype (array CGH)Identification of genome dosage imbalances (aneuploidies, deletions, duplications, unbalanced translocations) with array CGH method 1 4 6aCGH-1464.00up to 4 weeks
Premature Ovarian FailureIdentification of the normal number of (CGG) triplets in the FMR1 gene - screening test 4 6POF-171.00up to 3 weeks
Recurrent Pregnancy LossIdentification 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) 4 5 6POR-189.00up to 3 weeks
Identyfication of the M2 haplotype in the promotor region of the ANXA5 gene. 4 6POR-486.00up to 3 weeks
Sex DeterminationAnalysis of genetic markers specific to the AMGX, AMGY and SRY genes 4 6SRY-157.00up to 3 weeks
Sex determination of miscarriage materialAnalysis of tissue from the miscarriage using genetic markers specific to the AMGX, AMGY and SRY genes 2 7MPXY-171.00up to 3 weeks
CARDIOLOGY
Alagille syndromeNGS analysis of JAG1 and NOTCH2 genes 4 6ALGS-NGS595.00up to 8 weeks
Candersartan, Irbesartan, Losartan, Warfarin - activity of the CYP2C9Identification of the CYP2C9*2 and *3 variants 4 6CYP2C9-1157.00up to 5 weeks
Cardiomyopathy (hypertrophic and dilated)Panel of genes known to be associated with hypertrophic, dilated and left ventricular non-compaction. 4 6KP-NGS786.00up to 14 weeks
Carvedilol, Codeine, Metoprolol, Propranolol and Timolol - activity of the CYP2D6 Identification of the CYP2D6*4 variant 4 6CYP2D6-1100.00up to 4 weeks
Copy number assessment of the CYP2D6 gene by MLPA 6CYP2D6-MLPA243.00up to 6 weeks
Cerebral small vessel disease (CSVD)NGS analysis of 6 genes related to CSVD: NOTCH3, COL4A1, COL4A2, GLA, HTRA1 and TREX1 4 6CSVD-NGS619.00up to 8 weeks
Clopidogrel - analysis of the cytochrome CYP2C19 activityIdentification of the CYP2C19*2, *4 and *8 variants.  4 6CYP2C19-1157.00up to 4 weeks
Congenital thrombophiliaIdentification of the p.Arg534Gln (V Leiden, R506Q) mutation in the F5 gene and the c.*97G>A (20210G>A) mutation in the F2 gene  4 5 6F5-289.00up to 3 weeks
Costello SyndromeIdentification of the most frequent mutations in codons 12 and 13 and other mutations in exon 2 of the HRAS gene 4 6COS-174.00up to 3 weeks
Ehlers-Danlos syndromeNGS analysis of ADAMTS2, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A1, DSE, FKBP14, PLOD1, PRDM5, SLC39A13 and ZNF469 genes (according to the International EDS Classification 2017). 4 6EDS-NGS595.00up to 8 weeks
HomocystinuriaNGS analysis of the CBS gene 4 6CBS-NGS536.00up to 8 weeks
HypercholesterolemiaNGS analysis of LDLR, APOB, PCSK9 and LDLRAP1 genes. 4 6FHP-NGS595.00up to 8 weeks
Kabuki syndromeNGS analysis of KMT2D and KDM6A genes. 4 6KABUKI-NGS595.00up to 8 weeks
Long QT syndromeLong QT Syndrome types 1-3 (LQTS 1-3). NGS analysis of KCNQ1, KCNH2 and SCN5A genes. 4 6LQT-NGS595.00up to 8 weeks
Marfan SyndromeNGS analysis of the FBN1 gene. 4 6FBN1-NGS536.00up to 8 weeks
Noonan Syndrome NGS analysis of PTPN11, SOS1, RAF1, KRAS, BRAF, MAP2K1,NRAS, HRAS, RIT1, NF1, SPRED1, MAP2K2, CBL and c.4A>G in SHOC2 genes. 4 6NS-NGS643.00up to 8 weeks
Thoracic Aortic Aneurysms and Aortic Dissections (TAAD)Screening NGS analysis of 9 genes: ACTA2, COL3A1, FBN1, SMAD3, MYLK, MYH11, TGFB2, TGFBR2, TGFBR1 related to disease 4 6TAAD-NGS643.00up to 8 weeks
Warfarin - identification of genotype related to VKOR enzymatic activityIdentification of the rs9934438:C>T (1173C>T) variant in the VKORC1 gene 4 6VKORC1-1100.00up to 4 weeks
CYSTIC FIBROSIS
Cystic Fibrosis (CF)Targeted mutation analysis in the CFTR gene - carrier testing for a mutation of choice. 4 5 6CF-071.00up to 3 weeks
Identification of the p.Phe508del mutation with the possibility of detecting any of 77 mutations and variants in exon 11 of the CFTR gene 4 6CF-161.00up to 3 weeks
Identification of 700 mutations and variants in exons 4, 8, 11, 12, 14, 20, 23 and 24 of the CFTR gene, including 16 the most frequent in the Polish Caucasian subpopulation: p.Phe508del (F508del), c.54-5940_273+10250del21kb (dele2,3(21kb)), c.3718-2477C>T (3849+10kbC>T), p.Gly542* (G542X), c.1585-1G>A (1717‑1G>A), p.Asn1303Lys (N1303K), p.Arg553* (R553X), p.Trp1282* (W1282X), c.2012delT (2143delT), c.2051_2052delAAinsG (2183AA>G), c.2052dupA (2184insA), p.Arg334Trp (R334W), p.Arg347Pro (R347P), p.Gly551Asp (G551D), c.3140-26A>G (3272‑26A>G), p.Arg117H (R117H) 4 6CF-3212.00up to 4 weeks
NGS analysis of the CFTR gene. 4 6CF-NGS548.00up to 8 weeks
NEUROLOGY
Amyotrophic lateral sclerosis (ALS)Identification of the (GGGGCC) repeat expansion in the C9orf72 gene 4 6ALS-1214.00up to 3 weeks
NGS analysis of 24 genes related to ALS 4 6ALS-NGS643.00up to 8 weeks
AceruloplasminemiaNGS analysis of the CP gene 4 6CP-NGS536.00up to 8 weeks
AdrenoleucodystrophySequence analysis of the coding region of the ABCD1 gene 4 6ALD-NGS524.00up to 8 weeks
Alzheimer DiseaseNGS analysis of PSEN1, PSEN2, APP, GRN, TREM2 and SORL1 genes 4 6ALZ-NGS667.00up to 8 weeks
Angelman Syndrome Analysis of a methylation pattern and deletions in the 15q11-q13 region (MLPA) 6ANGEL-1155.00up to 8 weeks
Sequence analysis of exons 7-16 of the UBE3A gene - supplementary to the ANGEL-1 test 1 4 6ANGEL-2286.00up to 8 weeks
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy - CADASILNGS analysis of the NOTCH3 gene. 4 6NOTCH3-NGS536.00up to 8 weeks
Cerebral small vessel disease (CSVD)NGS analysis of 6 genes related to CSVD: NOTCH3, COL4A1, COL4A2, GLA, HTRA1 and TREX1 4 6CSVD-NGS619.00up to 8 weeks
Congenital central hypoventilation syndrome, CCHSSequence analysis of the coding region of the PHOX2B gene 4 6PHOX2B-1229.00up to 4 weeks
EpilepsyChildhood absence epilepsy (CAE). NGS analysis of 6 genes related to CAE: GABRG2, GABRA1, SLC2A1, JRK, GABRB3 and CACNA1H 4 6CAE-NGS571.00up to 8 weeks
Dravet syndrome. NGS analysis of 7 genes related to disease: SCN1A, GABRG2, SCN2A, SCN9A, GABRA1, PCDH19 and STXBP1 4 6DRAVET-NGS619.00up to 8 weeks
Epileptic encephalopathies. NGS analysis of 7 genes related to disease: SCN1B, SCN1A, GABRG2, PCDH19, CDKL5, GABRA1 and STXBP1  4 6EPIENCE-NGS571.00up to 8 weeks
Epilepsy. NGS analysis of 12 related genes: SCN1A, GABRG2, GABRA1, PCDH19, STXBP1, SCN9A, GABRB3, SLC2A1, JRK, SCN2A, TSC1 and TSC2 4 6EPIENCE2-NGS738.00up to 8 weeks
Fragile X SyndromeAnalysis of premutation and dynamic mutation in the FMR1 gene using genomic hybridisation - supplementary to FRAX-3 test 1 4 6FRAX-2200.00up to 12 weeks
Identification of the normal number of (CGG) triplets in the FMR1 gene - a screening test 4 6FRAX-371.00up to 3 weeks
Fragile X-associated tremor/ataxia syndrome (FXTAS)MS-MLPA analysis 4 6FRAX-4200.00up to 4 weeks
Frontotemporal dementia (FTD)NGS analysis of 11 genes related to FTD 4 6FTD-NGS643.00up to 8 weeks
Hereditary neuropathyNGS analysis of over 80 genes (custom panel) 4 6HNEUR-NGS786.00up to 14 weeks
Hereditary Sensory and Motor NeuropathiesCharcot-Marie-Tooth Neuropathy Type 1A (CMT1A). Identification of large duplications in the PMP22 gene using MLPA method 6CMT-MLPA214.00up to 4 weeks
Hereditary spastic paraplegia (HSP)Screening NGS analysis of SPAST, ATL1, KIF5A, REEP1, CYP7B1, SPG7, SPG11 and ZFYVE26 genes 4 6SPG-NGS1643.00up to 8 weeks
Screening NGS analysis of 33 genes (custom panel) 6SPG-NGS3714.00up to 8 weeks
Identification of large deletions i duplications in the SPAST and ATL1 genes using MLPA method 6SPG4-MLPA214.00up to 6 weeks
HomocystinuriaNGS analysis of the CBS gene 4 6CBS-NGS536.00up to 8 weeks
Kabuki syndromeNGS analysis of KMT2D and KDM6A genes. 4 6KABUKI-NGS595.00up to 8 weeks
Krabbe DiseaseIdentification of the IVS10del30kb deletion in the GALC gene 4 6GALC-186.00up to 3 weeks
NGS analysis of the GALC gene. 4 6GALC-NGS536.00up to 8 weeks
Metachromatic leukodystrophyNGS analysis of genes ARSA and PSAP related to MLD 4 6MLD-NGS595.00up to 8 weeks
Mitochondrial DiseasesNGS analysis of the mitochondrial genome 6mtDNA-NGS238.00up to 8 weeks
Muscular DystrophyBethlem/Ullrich myopathy. NGS analysis of CCOL6A1, COL6A2 and COL6A3 genes. 4 6BETH-NGS595.00up to 8 weeks
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  4 6CAPN3-1116.00up to 3 weeks
Limb-Girdle Muscular Dystrophy type 2A (LGMD2A). NGS analysis of the CAPN3 gene. 4 6CAPN3-NGS524.00up to 8 weeks
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 4 6DM1/DM2238.00up to 10 weeks
Duchenne/Becker muscular dystrophy (DMD/BMD). Identification of large deletions/duplications in the DMD gene using MLPA method 1 6DMD-MLPA188.00up to 6 weeks
Duchenne/Becker muscular dystrophy (DMD/BMD). NGS analysis of DMD gene. 4 6DMD-NGS536.00up to 8 weeks
Emery-Dreifuss muscular dystrophy (EDMD). NGS analysis of EMD, FHL1 and LMNA genes. 4 6EDMD-NGS595.00up to 8 weeks
HyperCKemia. NGS analysis of CAV3, GAA and DAG1 genes. 4 6HCK-NGS595.00up to 8 weeks
LAMA2-Related Muscular Dystrophy (LAMA2 MD). NGS analysis of the LAMA2 gene 4 6LAMA2-NGS536.00up to 8 weeks
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) 4 6LGMD-NGS714.00up to 8 weeks
Limb-Girdle Muscular Dystrophy type 1 (LGMD1). NGS analysis of 7 genes: CAV3, DES, DNAJB6, HNRNPDL, LMNA, MYOT and TNPO3 related to LGMD type 1A-G. 4 6LGMD1-NGS595.00up to 8 weeks
Limb-Girdle Muscular Dystrophy type 2 (LGMD2). NGS analysis of 15 genes: CAPN3, ANO5, DYSF, FKRP, FKTN, PLEC, POMGNT1, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP and TRAPPC11 related to LGMD type 2A-G, I, K-O, Q and S. 4 6LGMD2-NGS643.00up to 8 weeks
Walker-Warburg syndrome. NGS analysis 11 genes related to the disease:POMT1, POMT2, FKTN, FKRP, POMGNT1, ISPD, LARGE, COL6A1, COL6A2, COL6A3 and DAG1  4 6WWS-NGS643.00up to 8 weeks
Neurodegeneration with brain iron accumulation (NBIA)NGS analysis of PPANK2, WDR45, PLA2G6, C19orf12, FTL and CP genes 4 6NBIA-NGS619.00up to 8 weeks
NeurofibromatosisNeurofibromatosis type I, II and Legius syndrome. NGS analysis of NF1, NF2 and SPRED1 genes. 4 6NF-NGS595.00up to 8 weeks
Neurofibromatosis type I (von Recklinghausen`s Disease). Identification of large deletions and insertions in the NF1 gene using MLPA method 6NF1-MLPA214.00up to 6 weeks
Neurofibromatosis type II. Identification of large deletions and insertions in the NF2 gene using MLPA method gene using MLPA method 1 6NF2-MLPA236.00up to 8 weeks
Neuronal ceroid lipofuscinosisCLN2 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  4 6CLN2-177.00up to 3 weeks
CLN3 disease, classic juvenile. Identification of the most frequent CLN3 deletion 4 6CLN3-1114.00up to 5 weeks
Niemann-Pick Disease type A, B and CNGS analysis of the coding region the NPC1, NPC2 and SMPD1 genes 4 6NPC-NGS667.00up to 8 weeks
Parkinson diseaseSequence analysis of the coding region of over 20 respective genes, including PRKN and PARK7 PARK-NGS786.00up to 14 weeks
Prader-Willi SyndromeAnalysis of methylation pattern and deletions in the 15q11-q13 region1 6PWS-1155.00up to 8 weeks
Refsum DiseaseScreening NGS analysis of PEX7 and PHYH genes. 4 6REFS-NGS595.00up to 8 weeks
Rett SyndromeSequence analysis of the coding region of the MECP2 gene 4 6RETT-1143.00up to 3 weeks
Rubinstein-Taybi SyndromeScreening NGS analysis of the CREBBP and EP300 gene 4 6RSTS-NGS595.00up to 8 weeks
Segawa syndromeNGS analysis of i>GCH1 and TH1 genes. 4 6DRD-NGS595.00up to 8 weeks
Smith-Lemli-Opitz SyndromeIdentification 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 4 6SLOS-1129.00up to 4 weeks
Sotos syndromeNGS analysis of analysis of the NSD1 gene. 4 6NSD1-NGS524.00up to 8 weeks
Spinal and bulbar muscular atrophy (Kennedy's Disease)Identification of the number of CAG repeats in exon 1 of the AR gene 4 6SBMA-171.00up to 3 weeks
Spinal Muscular AtrophyIdentification of the exon 7 and 8 deletion in the SMN1 gene - carrier testing and SMN1/SMN2 copy number assessment. 6SMA-2155.00up to 4 weeks
Sequence analysis of the coding region of the SMN1 gene 4 6SMA-3202.00up to 8 weeks
Identification of the exon 7 and 8 deletion in the SMN1 gene - carrier testing and SMN1/SMN2 copy number assessment. 6SMA-483.00up to 6 weeks
Tuberous sclerosisScreening NGS analysis of TSC1 and TSC2 genes. 4 6TSC-NGS595.00up to 8 weeks
OPHTHALMOLOGY
Age-related Macular Degeneration (AMD)Identification of the p.Tyr402His mutation and other mutations in the exon 9 of the CFH gene and the p.Ala69Ser (rs10490924) variant in the ARMS2 4 6AMD-1119.00up to 3 weeks
Alagille syndromeNGS analysis of JAG1 and NOTCH2 genes 4 6ALGS-NGS595.00up to 8 weeks
Alport syndromeNGS analysis of COL4A3, COL4A4 and COL4A5 genes. 4 6AS-NGS595.00up to 8 weeks
HomocystinuriaNGS analysis of the CBS gene 4 6CBS-NGS536.00up to 8 weeks
Marfan SyndromeNGS analysis of the FBN1 gene. 4 6FBN1-NGS536.00up to 8 weeks
Mitochondrial DiseasesNGS analysis of the mitochondrial genome 6mtDNA-NGS238.00up to 8 weeks
Refsum DiseaseScreening NGS analysis of PEX7 and PHYH genes. 4 6REFS-NGS595.00up to 8 weeks
Retinal dystrophyScreening NGS analysis of over 200 genes 4 6RETIN-NGS786.00up to 14 weeks
ONCOLOGY
Bloom SyndromeNGS analysis of the BLM gene.BLM-NGS536.00up to 8 weeks
BRAF Gene TestingIdentification of the p.Val600Glu, p.Val600Lys, p.Val600Arg, p.Val600Met, p.Val600Gly, p.Val600Asp and other mutations in exon 15 of the BRAF gene - analysis for targeted therapy 2BRAF-1114.00up to 4 weeks
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 4 6CHEK2-1113.00up to 4 weeks
Diffuse Gastric Cancer NGS analysis of the CDH1 gene. 4 6CDH-NGS530.00up to 8 weeks
EGFR Gene TestingSequence analysis of selected EGFR gene regions (exons 20-23 (legacy No 18-21) for targeted therapy  2EGFR-1186.00up to 3 weeks
Familial Medullary Thyroid Carcinoma (FMTC)Sequence analysis of exons 10, 11, 13, 14, 15, and 16 of the RET gene 4 6RET-1232.00up to 4 weeks
Hereditary breast/ovarian cancer - analysis the BRCA1 gene mutations in accordance with EMQN recommendationsSequence 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)) 4 6BRCA1-1104.00up to 3 weeks
Inherited polyposesFamilial 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 4 6APC-1125.00up to 4 weeks
Adenomatous polyposis (FAP, MAP, juvenile). Screening NGS analysis of APC, MUTYH, BMPR1A and SMAD4 genes 4 6POLYPOSIS-NGS595.00up to 8 weeks
KRAS gene analysisSequence analysis of exon 2-4 of the KRAS gene prior to targeted therapy in colorectal cancer (identification of codon 12 and 13 mutations)  2KRAS-1171.00up to 4 weeks
Li-Fraumeni Syndrome Sequence analysis of the TP53 gene 4 6TP53-NGS476.00up to 3 weeks
Lynch syndrome, hereditary non-polyposis colorectal cancer (HNPCC)NGS analysis of MLH1, MSH2, MSH6 and PMS2 genes 4 6HNPCC-NGS595.00up to 8 weeks
Multiple Endocrine NeoplasiaMultiple endocrine neoplasia type 2 (MEN2A and MEN2B). Sequence analysis of exons 10, 11, 13, 14, 15, and 16 of of the RET gene 4 6MEN-1232.00up to 4 weeks
Multiple endocrine neoplasia type 1. Sequence analysis of the coding region of the MEN1 gene 4 6MEN-2429.00up to 4 weeks
Multiple endocrine neoplasia type 1 (MEN1) i type 2 (MEN2A and MEN2B). NGS analysis of MEN1 and RET genes. 4 6MEN-NGS595.00up to 8 weeks
NeurofibromatosisNeurofibromatosis type I, II and Legius syndrome. NGS analysis of NF1, NF2 and SPRED1 genes. 4 6NF-NGS595.00up to 8 weeks
Neurofibromatosis type I (von Recklinghausen`s Disease). Identification of large deletions and insertions in the NF1 gene using MLPA method 6NF1-MLPA214.00up to 6 weeks
Neurofibromatosis type II. Identification of large deletions and insertions in the NF2 gene using MLPA method gene using MLPA method 1 6NF2-MLPA236.00up to 8 weeks
Nijmegen breakage syndrome Identification of the most frequent c.657_661del5 mutation and other mutations in the exon 6 of the NBN gene 4 6NBS-186.00up to 4 weeks
Peutz-Jeghers syndromeScreening NGS analysis of the STK11 gene. 4 6STK11-NGS476.00up to 8 weeks
RetinoblastomaScreening NGS analysis of the RB1 gene. 4 6RB1-NGS595.00up to 8 weeks
Screening NGS panel for hereditary cancersFor patients with familial cancer - testing for hereditary breast, ovarian and prostate cancer. NGS analysis of BRCA1 and BRCA2 genes. 4 6BRCA-NGS500.00up to 8 weeks
For patients with familial cancer - NGS analysis of the whole coding sequence of 70 hereditary cancer-related genes 4 6VIP ONKO-4690.00up to 8 weeks
Screening NGS panel for somatic variants in breast cancerScreening NGS panel for somatic variants in breast cancer. For patients with familial cancer or breast cancer patients - NGS analysis of the whole coding sequence of 93 breast cancer-related genes. The test also allows for a liquid biopsy-based cancer profiling.  2 6VIP ONKO-SOMATIC714.00contact us
Screening panel for hereditary cancersFor women - diagnostic testing for hereditary breast and ovarian, colon, thyroid, lung, kidney cancer and melanoma. Analysis of the most common mutations in the BRCA1, CHEK2, NBN and CDKN2A genes, implicated in cancer development 4 6VIP ONKO-1357.00up to 4 weeks
For men - diagnostic testing for hereditary prostate, breast, colon, thyroid, lung, kidney cancer and melanoma. Analysis of the most common mutations in the BRCA1, CHEK2, NBN, HOXB13 and CDKN2A genes, implicated in cancer development 4 6VIP ONKO-2357.00up to 4 weeks
von Hippel-Lindau Syndrome (Familial Cerebelloretinal Angiomatosis)Sequence analysis of the coding region of the VHL gene 4 6VHL-1125.00up to 3 weeks
ORTHOPAEDICS
AchondroplasiaIdentification of the p.Gly380Arg mutation and other mutations in exon 10 of the FGFR3 gene  4 6ACH-179.00up to 3 weeks
Alagille syndromeNGS analysis of JAG1 and NOTCH2 genes 4 6ALGS-NGS595.00up to 8 weeks
Alport syndromeNGS analysis of COL4A3, COL4A4 and COL4A5 genes. 4 6AS-NGS595.00up to 8 weeks
Ankylosing spondylitis (Bechterews disease)Determination of the HLA-B27 allele presence 1 4 6HLA-262.00up to 4 weeks
Apert SyndromeIdentification of p.Ser252Trp, p.Pro253Arg, c.755_756delCGinsTT and other mutations in exon 8 of the FGFR2 gene 4 6APS-186.00up to 3 weeks
Crouzon SyndromeSequence analysis of exons 8 and 10 of the FGFR2 gene 4 6CROUZ-1129.00up to 3 weeks
Ehlers-Danlos syndromeNGS analysis of ADAMTS2, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A1, DSE, FKBP14, PLOD1, PRDM5, SLC39A13 and ZNF469 genes (according to the International EDS Classification 2017). 4 6EDS-NGS595.00up to 8 weeks
HomocystinuriaNGS analysis of the CBS gene 4 6CBS-NGS536.00up to 8 weeks
HypochondroplasiaIdentification of the common p.Asn540Lys mutation and other mutations in the exon 13 of the FGFR3 gene  4 6HYPOCH-179.00up to 3 weeks
Klippel-Feil syndromeNGS analysis of GDF6, GDF3 and MEOX1 genes. 4 6KFS-NGS595.00up to 8 weeks
Marfan SyndromeNGS analysis of the FBN1 gene. 4 6FBN1-NGS536.00up to 8 weeks
McCune-Albright syndrome Identification of the p.Arg201His, p.Arg201Cys and other mutations in exons 7-9 of the GNAS gene in the affected tissue 4 6GNAS-191.00up to 3 weeks
Muenke SyndromeIdentification of the p.Pro250Arg mutation in the exon 7 of the FGFR3 gene 4 6MUE-186.00up to 3 weeks
Osteogenesis ImperfectaNGS analysis of COL1A1 and COL1A2genes. 4 6OI-NGS595.00up to 8 weeks
Pfeiffer SyndromeIdentification of the most frequent p.Pro252Arg mutation in exon 7 of the FGFR1 gene  4 6PFE-186.00up to 3 weeks
PsoriasisIdentification of the HLA-Cw6 haplotype1 4 6HLA-167.00up to 4 weeks
Rubinstein-Taybi SyndromeScreening NGS analysis of the CREBBP and EP300 gene 4 6RSTS-NGS595.00up to 8 weeks
Thanatophoric dysplasia type IIdentification of the most frequent mutations: p.Arg248Cys, p.Tyr373Cys and other mutations in exons 7 and 10 of the FGFR3 gene 6 7DTAN-1143.00up to 3 weeks
GENOMIC RESEARCH
AceruloplasminemiaNGS analysis of the CP gene 4 6CP-NGS536.00up to 8 weeks
AdrenoleucodystrophySequence analysis of the coding region of the ABCD1 gene 4 6ALD-NGS524.00up to 8 weeks
Alagille syndromeNGS analysis of JAG1 and NOTCH2 genes 4 6ALGS-NGS595.00up to 8 weeks
Alzheimer DiseaseNGS analysis of PSEN1, PSEN2, APP, GRN, TREM2 and SORL1 genes 4 6ALZ-NGS667.00up to 8 weeks
Cerebral small vessel disease (CSVD)NGS analysis of 6 genes related to CSVD: NOTCH3, COL4A1, COL4A2, GLA, HTRA1 and TREX1 4 6CSVD-NGS619.00up to 8 weeks
Diagnostic exomeWhole exome sequencing with subsequent analysis restricted to the clinical question 4 6EXOME-1833.00up to 12 weeks
Re-analysis of the whole exome sequencing data obtained using the the EXOME-1 testEXOME-2310.00contact us
Ehlers-Danlos syndromeNGS analysis of ADAMTS2, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A1, DSE, FKBP14, PLOD1, PRDM5, SLC39A13 and ZNF469 genes (according to the International EDS Classification 2017). 4 6EDS-NGS595.00up to 8 weeks
Frontotemporal dementia (FTD)NGS analysis of 11 genes related to FTD 4 6FTD-NGS643.00up to 8 weeks
Hereditary neuropathyNGS analysis of over 80 genes (custom panel) 4 6HNEUR-NGS786.00up to 14 weeks
HomocystinuriaNGS analysis of the CBS gene 4 6CBS-NGS536.00up to 8 weeks
Inborn metabolic disordersNGS analysis of over 150 genes (custom NGS panel) 4 6IMD-NGS833.00up to 14 weeks
Klippel-Feil syndromeNGS analysis of GDF6, GDF3 and MEOX1 genes. 4 6KFS-NGS595.00up to 8 weeks
Metachromatic leukodystrophyNGS analysis of genes ARSA and PSAP related to MLD 4 6MLD-NGS595.00up to 8 weeks
Mitochondrial DiseasesNGS analysis of the mitochondrial genome 6mtDNA-NGS238.00up to 8 weeks
Neurodegeneration with brain iron accumulation (NBIA)NGS analysis of PPANK2, WDR45, PLA2G6, C19orf12, FTL and CP genes 4 6NBIA-NGS619.00up to 8 weeks
Neuromuscular diseasesNGS analysis of over 400 genes 4 6NMD-NGS833.00up to 14 weeks
Neuronal ceroid lipofuscinosisCLN2 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  4 6CLN2-177.00up to 3 weeks
CLN3 disease, classic juvenile. Identification of the most frequent CLN3 deletion 4 6CLN3-1114.00up to 5 weeks
Niemann-Pick Disease type A, B and CNGS analysis of the coding region the NPC1, NPC2 and SMPD1 genes 4 6NPC-NGS667.00up to 8 weeks
Parkinson diseaseSequence analysis of the coding region of over 20 respective genes, including PRKN and PARK7 PARK-NGS786.00up to 14 weeks
Pompe diseaseNGS analysis of the coding region of the GAA gene 4 6GAA-NGS529.00up to 8 weeks
Refsum DiseaseScreening NGS analysis of PEX7 and PHYH genes. 4 6REFS-NGS595.00up to 8 weeks
Retinal dystrophyScreening NGS analysis of over 200 genes 4 6RETIN-NGS786.00up to 14 weeks
Screening NGS panel for hereditary cancersFor patients with familial cancer - testing for hereditary breast, ovarian and prostate cancer. NGS analysis of BRCA1 and BRCA2 genes. 4 6BRCA-NGS500.00up to 8 weeks
For patients with familial cancer - NGS analysis of the whole coding sequence of 70 hereditary cancer-related genes 4 6VIP ONKO-4690.00up to 8 weeks
Screening NGS panel for somatic variants in breast cancerScreening NGS panel for somatic variants in breast cancer. For patients with familial cancer or breast cancer patients - NGS analysis of the whole coding sequence of 93 breast cancer-related genes. The test also allows for a liquid biopsy-based cancer profiling.  2 6VIP ONKO-SOMATIC714.00contact us
Segawa syndromeNGS analysis of i>GCH1 and TH1 genes. 4 6DRD-NGS595.00up to 8 weeks
Sotos syndromeNGS analysis of analysis of the NSD1 gene. 4 6NSD1-NGS524.00up to 8 weeks
Surfactant deficiencyScreening NGS analysis of SFTPB, SFTPC and ABCA3 genes 4 6SURF-NGS595.00up to 8 weeks
OTHER
Additional servicesAny marker or mutation from the GENOMED offer 4 6INNE-183.00contact us
Analysis of mutation/amplicon not included in standard offer. 4 6INNE-4119.00contact us
Biobanking (up to 5 years). 4 6INNE-524.00contact us
CCR5 genotyping - prognosis of susceptibility to HIV infectionIdentification of the c.554_585del32 variant in the CCR5 gene 4 6CCR5-171.00up to 3 weeks
Diagnostic exomeWhole exome sequencing with subsequent analysis restricted to the clinical question 4 6EXOME-1833.00up to 12 weeks
Re-analysis of the whole exome sequencing data obtained using the the EXOME-1 testEXOME-2310.00contact us
Lymphocyte KaryotypeAnalysis of quantitative and qualitative chromosome aberrations using classical cytogenetic methods 1 3
KAR-1117.00up to 4 weeks
Analysis of quantitative and qualitative chromosome aberrations using classical cytogenetic methods for both parents 1 3
KAR-2229.00up to 4 weeks
Microdeletion SyndromesMicrodeletion 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  6MICDEL-1167.00up to 5 weeks
Microdeletion syndromes analysis: 1q21.1 (TAR syndrome), 1q21.1 (regions other than TAR), 3q29, 7q36.1 (CNTNAP2 gene), 12p11.23 (involved in schizophrenia), 15q13, 15q24.1 (PML gene, outside 15q24 syndrome), 16p11, 17q12, 18q21.2 (TCF4 gene), 20p12.2 (PAK7 gene) by MLPA 1  6MICDEL-2167.00up to 5 weeks
Mitochondrial DiseasesNGS analysis of the mitochondrial genome 6mtDNA-NGS238.00up to 8 weeks
Molecular karyotype (array CGH)Identification of genome dosage imbalances (aneuploidies, deletions, duplications, unbalanced translocations) with array CGH method 1 4 6aCGH-1464.00up to 4 weeks
Newborn screeningNewborn NGS screening for over 50 genetic disorders.  6PRZESIEW-NGS548.00up to 4 weeks
Sex DeterminationAnalysis of genetic markers specific to the AMGX, AMGY and SRY genes 4 6SRY-157.00up to 3 weeks
Sex determination of miscarriage materialAnalysis of tissue from the miscarriage using genetic markers specific to the AMGX, AMGY and SRY genes 2 7MPXY-171.00up to 3 weeks
Surfactant deficiencyScreening NGS analysis of SFTPB, SFTPC and ABCA3 genes 4 6SURF-NGS595.00up to 8 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 (Oragene 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.15.11. 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