ul. Ponczowa 12, 02-971 WARSZAWA
Tel: 22-644-6019 Fax: +48 22-644-6025
email: diagnostyka@genomed.pl www.nzoz.genomed.pl
|
NZOZ Genomed ul. Ponczowa 12, 02-971 WARSZAWA Tel: 22-644-6019 Fax: +48 22-644-6025 email: diagnostyka@genomed.pl www.nzoz.genomed.pl |
| Disease | Test description | Test code | Price [EUR] | Turnaround time |
|---|---|---|---|---|
| AUDIOLOGY | ||||
| Alport syndrome | NGS analysis of COL4A3, COL4A4 and COL4A5 genes. 4 6 | AS-NGS | 556.00 | up to 8 weeks |
| Deafness and Hereditary Hearing Loss | NGS analysis of over 60 genes (custom panel) 4 6 | DFN-NGS | 844.00 | up 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 6 | GJB2-2 | 83.00 | up to 3 weeks | |
| Deletion/duplication analysis of the GJB2, GJB3, GJB6, WFS1 and POU3F4 genes 6 | GJB2-MLPA | 220.00 | up 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 6 | GJB6-1 | 84.00 | up to 3 weeks | |
| ENDOCRINOLOGIC DISEASES | ||||
| ANDROGEN INSENSITIVITY SYNDROME | Sequence analysis of the coding region of the androgen receptor (AR) gene, together with a genetic sex determination 4 6 | AR-SNGS | 378.00 | up to 14 weeks |
| Congenital Adrenal Hyperplasia | Sequence analysis of the coding region of the CYP21A2 gene and Identification of deletions i duplications in the CYP21A2 gene using MLPA method 6 | WPN-1 | 367.00 | up to 6 weeks |
| Disorder of sex development | WES-based analysis 4 6 | XY-NGS | 844.00 | up to 14 weeks |
| Thyroid Hormone Resistance | Sequence analysis of exons 7-10 of the THRB gene 4 6 | THRB-1 | 162.00 | up to 3 weeks |
| METABOLIC DISEASES | ||||
| CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY | Identification of the p.Ser113Leu mutation in the CPT2 gene 4 6 | CPT2-1 | 100.00 | up to 4 weeks |
| Cystinosis | Identification of homozygous 57kb deletion in the CTNS gene - clinical outcome verification 4 6 | CTNS-1 | 133.00 | up to 3 weeks |
| Fabry disease | Sequence analysis of the whole coding region of the GLA gene 4 6 | GLA-3 | 293.00 | up to 6 weeks |
| Galactosemia | Identification of the two most common mutations p.Gln188Arg, p.Lys285Asn and other mutations in exons 6-9 of the GALT gene 4 6 | GALT-1 | 133.00 | up to 3 weeks |
| Gaucher`s Disease | Identification of the most frequent mutations c.1226A>G, p.Asn409Ser (N370S), c.1448T>C, p.Leu483Pro (L444P), c.84dupG (84GG), c.115+1G>A (IVS2+1G>A) and other mutations in the exons 3, 10 and 11 of the GBA gene 4 6 | GD-2 | 162.00 | up to 3 weeks |
| Inborn metabolic disorders | NGS analysis of over 600 genes (WES-based panel) 4 6 | IMD-NGS | 844.00 | up to 14 weeks |
| NGS analysis of 34 genes related to hyperammonemia, including urea cycle disorders: ACADM, ACADS, ACADVL, ALDH18A1, ARG1, ASL, ASS1, BCKDHA, BCKDHB, CPS1, CPT1A, CPT2, DBT, ETFA, ETFB, ETFDH, GLUD1, HADHA, HADHB, HLCS, HMGCL, IVD, MCCC1, MCCC2, MMAA, MMAB, MUT, NAGS, OTC, PCCA, PCCB, SLC22A5, SLC25A13, SLC25A20 4 6 | UREA-NGS | 667.00 | up to 8 weeks | |
| Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency | Identification of the p.Glu510Gln mutation in the HADHA gene, frequent in Polish patients with LCHAD deficiency 4 6 | LCHAD-1 | 100.00 | up to 3 weeks |
| McCune-Albright syndrome | Identification of the p.Arg201His, p.Arg201Cys, p.Gln227Leu and other variants in exons 8-9 of the GNAS gene in the affected tissue 4 6 | GNAS-1 | 100.00 | up 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 6 | MCAD-1 | 100.00 | up to 3 weeks |
| Mitochondrial Diseases | NGS analysis of the mitochondrial genome 6 | mtDNA-NGS | 267.00 | up to 8 weeks |
| Mucopolysaccharidosis | Mucopolysaccharidosis type I, II, IIIA-D, IVA, IVB, VI and VII. NGS analysis of IDUA, IDS, SGSH, NAGLU, HGSNAT, GNS, GALNS, GLB1, ARSB and GUSB genes. 4 6 | MPS-NGS | 556.00 | up to 8 weeks |
| Neuronal ceroid lipofuscinosis | CLN2 disease, classic late infantile. Identification of the most frequent p.Arg208*, c.509-1G>C (IVS5-1G>C) and other mutations in exons 5 and 6 of the TPP1 gene 4 6 | CLN2-1 | 80.00 | up to 3 weeks |
| CLN3 disease, classic juvenile. Identification of the most frequent CLN3 deletion 4 6 | CLN3-1 | 133.00 | up to 3 weeks | |
| Newborn screening | INFANO - NGS screening for infants and little children covering over 70 genetic disorders for which prophylactic or treatment options are available. Testing includes metabolic diseases, early age cancers, cardiac arrhythmias, malignant hyperthermia. 4 6 | INFANO | 533.00 | up to 8 weeks |
| Niemann-Pick Disease type A, B and C | NGS analysis of the coding region the NPC1, NPC2 and SMPD1 genes 4 6 | NPC-NGS | 556.00 | up to 8 weeks |
| Nonketotic Hyperglycinemia | Sequence analysis of the coding region of the GLDC, AMT, GCSH genes 4 6 | NHG-NGS | 556.00 | up to 8 weeks |
| Phenylketonuria | Identification of the most frequent mutations p.Arg408Trp, p.Arg158Gln, c.1315+1G>A (IVS12+1G>A) and c.1066-11G>A (IVS10-11G>A) as well as of other mutations in exons 5, 11 and 12 of the PAH gene 4 6 | PAH-1 | 133.00 | up to 3 weeks |
| Pompe disease | NGS analysis of the coding region of the GAA gene 4 6 | GAA-NGS | 467.00 | up to 8 weeks |
| Smith-Lemli-Opitz Syndrome | Identification of p.Trp151*, p.Val326Leu, p.Leu157Pro, p.Arg353Trp, IVS8-1G>C, p.Arg446Gln and other mutations in the exons 4,6 and 9 of the DHCR7 gene 4 6 | SLOS-1 | 156.00 | up to 4 weeks |
| Surfactant deficiency | Screening NGS analysis of SFTPB, SFTPC and ABCA3 genes 4 6 | SURF-NGS | 556.00 | up to 8 weeks |
| Trimethylaminuria (Fish Odor Syndrome) | Sequence analysis of the coding region of the FMO3 gene (NGS) 4 6 | FMO3-NGS | 467.00 | up to 8 weeks |
| DERMATOLOGY | ||||
| Ectodermal dysplasia | NGS analysis of genes related to ectodermal dysplasia (based on WES). 4 6 | EDA-NGS | 844.00 | up to 14 weeks |
| Job Syndrome (Hyper-IgE Syndrome) | Screening NGS analysis of the DOCK8, SPINK5, STAT3, RAG1, RAG2, DCLRE1C genes. 4 6 | HIGE-NGS | 556.00 | up to 8 weeks |
| McCune-Albright syndrome | Identification of the p.Arg201His, p.Arg201Cys, p.Gln227Leu and other variants in exons 8-9 of the GNAS gene in the affected tissue 4 6 | GNAS-1 | 100.00 | up to 3 weeks |
| Netherton Syndrome | Screening NGS analysis of the SPINK5 gene. 4 6 | SPINK5-NGS | 467.00 | up to 8 weeks |
| Neurofibromatosis | Neurofibromatosis type I, II and Legius syndrome. NGS analysis of NF1, NF2 and SPRED1 genes. 4 6 | NF-NGS | 422.00 | up to 8 weeks |
| Neurofibromatosis type I (von Recklinghausen`s Disease). Identification of large deletions and insertions in the NF1 gene using MLPA method 1 6 | NF1-MLPA | 220.00 | up to 6 weeks | |
| Neurofibromatosis type II. Identification of large deletions and insertions in the NF2 gene using MLPA method gene using MLPA method 1 6 | NF2-MLPA | 220.00 | up to 8 weeks | |
| Porphyria | Sequence analysis of the coding region of the PPOX, CPOX, HMBS and ALAD genes 4 6 | PRF-NGS | 556.00 | up to 8 weeks |
| Psoriasis | Identification of the HLA-Cw6 haplotype1 4 6 | HLA-1 | 84.00 | up to 4 weeks |
| PHARMACOGENETICS | ||||
| Candersartan, Irbesartan, Losartan, Warfarin - activity of the CYP2C9 | Identification of the CYP2C9*2 and *3 variants 4 6 | CYP2C9-1 | 147.00 | up to 5 weeks |
| Carvedilol, Codeine, Metoprolol, Propranolol and Timolol - activity of the CYP2D6 | Identification of the CYP2D6*4 and *3 variants 4 6 | CYP2D6-1 | 147.00 | up to 4 weeks |
| Copy number assessment of the CYP2D6 gene by MLPA 6 | CYP2D6-MLPA | 249.00 | up to 6 weeks | |
| Clopidogrel - analysis of the cytochrome CYP2C19 activity | Identification of the CYP2C19*2, *3, *4, *6 and *8 haplotypes. 4 6 | CYP2C19-1 | 147.00 | up to 4 weeks |
| Screening NGS panel for somatic variants in breast cancer | Screening 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 6 | ONKO-SOMATIC | 667.00 | contact us |
| GASTROENTEROLOGY | ||||
| Alpha1-Antitrypsin Deficiency | Identification of the p.Glu288Val (S allele, E264V) and p.Glu366Lys (Z allele, E342K) mutations in the SERPINA1 gene 4 6 | AAT-1 | 122.00 | up to 3 weeks |
| Sequence analysis of the coding region of the SERPINA1 gene 4 6 | AAT-3 | 167.00 | up to 4 weeks | |
| Coeliac disease | Identification of the HLA-DQ2 and DQ8 haplotypes1 4 6 | CELIAKIA-1 | 89.00 | up to 4 weeks |
| Crigler-Najjar Syndrome | Sequence analysis of the coding region and the fragment of promoter region of the UGT1A1 gene 4 6 | CRIG-1 | 267.00 | up to 4 weeks |
| Diffuse Gastric Cancer | NGS analysis of the CDH1 gene. 4 6 | CDH-NGS | 467.00 | up to 8 weeks |
| Fructosemia | Identification of the p.Ala150Pro and p.Ala175Asp mutations and other located in the exon 5 of the ALDOB gene 4 6 | ALDOB-1 | 100.00 | up to 3 weeks |
| Gilbert Syndrome | Analysis of the number of repeats (TA)n in the UGT1A1 gene promoter 4 6 | UGT-1 | 82.00 | up to 3 weeks |
| Haemochromatosis | Identification of the most frequent mutations p.Cys282Tyr and p.His63Asp together with other mutations in exons 2 and 4 of the HFE gene 4 6 | HFE-1 | 122.00 | up to 3 weeks |
| NGS analysis of HFE, HJV, HAMP, TFR2,BMP6 and SLC40A1 genes. 4 6 | HFE-NGS | 556.00 | up to 8 weeks | |
| Inherited polyposes | Familial Adenomatous Polyposis (FAP). Identification of the 4 most frequent mutations in the APC gene: c.3927_3931delAAAGA, c.3183_3187delACAAA, c.3202_3205delTCAA, p.Tyr500* and other mutations in exon 14 and analysed fragment of exon 18 of the APC gene 4 6 | APC-1 | 133.00 | up to 4 weeks |
| Adenomatous polyposis (FAP, MAP, juvenile). Screening NGS analysis of APC, MUTYH, BMPR1A and SMAD4 genes 4 6 | POLYP-NGS | 556.00 | up to 8 weeks | |
| Lynch syndrome, hereditary non-polyposis colorectal cancer (HNPCC) | NGS analysis of MLH1, MSH2, MLH3, MSH6 and PMS2 genes 4 6 | HNPCC-NGS | 556.00 | up to 8 weeks |
| Pancreatitis (acute and chronic) | Identification of the most frequent mutations in the PRSS1 gene responsible for dominant early-onset pancreatitis (p.Arg122His, p.Arg122Cys, p.Ala16Val, p.Asn29Ile) 4 6 | ZT-2 | 133.00 | up to 4 weeks |
| NGS analysis of the coding sequence of disease-related genes: PRSS1, SPINK1, CFTR, CTRC, CASR and CPA1 4 6 | ZT-NGS | 556.00 | up to 8 weeks | |
| Porphyria | Sequence analysis of the coding region of the PPOX, CPOX, HMBS and ALAD genes 4 6 | PRF-NGS | 556.00 | up to 8 weeks |
| Wilson Disease | Identification of the most frequent mutation p.His1069Gln and other mutations in exon 14 of the ATP7B gene 4 6 | WD-1 | 84.00 | up to 4 weeks |
| NGS analysis of the ATP7B gene. 4 6 | WD-NGS | 467.00 | up to 8 weeks | |
| GYNECOLOGY and INFERTILITY | ||||
| ANDROGEN INSENSITIVITY SYNDROME | Sequence analysis of the coding region of the androgen receptor (AR) gene, together with a genetic sex determination 4 6 | AR-SNGS | 378.00 | up to 14 weeks |
| Congenital Adrenal Hyperplasia | Sequence analysis of the coding region of the CYP21A2 gene and Identification of deletions i duplications in the CYP21A2 gene using MLPA method 6 | WPN-1 | 367.00 | up to 6 weeks |
| Disorder of sex development | WES-based analysis 4 6 | XY-NGS | 844.00 | up to 14 weeks |
| Infertility | Identification of 288 mutations in the CFTR gene, including 9 mutations that are the most frequent in male infertility (p.Phe508del (F508del), c.54-5940_273+10250del21kb (dele2,3(21kb)), c.3718-2477C>T (3849+10kbC>T), c.1210-12T[5] (IVS8 (T)5, IVS8-5T), c.1210-34TG[13]T[5] (IVS8 (TG)13(T)5), p.Arg117His (R117H), p.Arg553* (R553X), p.Gly551Asp (G551D), p.Gly542* (G542X)) 4 6 | NP-1 | 142.00 | up to 3 weeks |
| Analysis of microdeletions in the AZF region of the Y chromosome (analysis of 6 loci) 4 6 | NP-2 | 93.00 | up 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 6 | NP-5 | 293.00 | up to 4 weeks | |
| Lymphocyte Karyotype | Analysis of quantitative and qualitative chromosome aberrations using classical cytogenetic methods 1 3 | KAR-1 | 120.00 | up to 5 weeks |
| Analysis of quantitative and qualitative chromosome aberrations using classical cytogenetic methods for both parents 1 3 | KAR-2 | 111.00 | up to 5 weeks | |
| Molecular karyotype (array CGH) | Identification of genome dosage imbalances (aneuploidies, deletions, duplications, unbalanced translocations) with array CGH method 1 4 6 7 | aCGH-1 | 433.00 | up to 4 weeks |
| Premature Ovarian Failure | Identification of the normal number of (CGG) triplets in the FMR1 gene - screening test 6 | POF-1 | 89.00 | up to 5 weeks |
| Recurrent Pregnancy Loss | Identification of two mutations: p.Arg534Gln (V Leiden, R506Q) in the F5 gene and c.*97G>A (20210G>A) in the F2 gene (in accordance with the Recommendations of the Polish Gynecological Society and the Standards and Guidelines for Clinical Genetics Laboratories, 2006, Am. College of Medical Genetics) 4 6 | POR-1 | 93.00 | up to 3 weeks |
| Identyfication of the M2 haplotype in the promotor region of the ANXA5 gene. 4 6 | POR-4 | 88.00 | up to 3 weeks | |
| Sex Determination | Analysis of genetic markers specific to the AMGX, AMGY and SRY genes 4 6 | SRY-1 | 67.00 | up to 3 weeks |
| Sex determination of miscarriage material | Analysis of tissue from the miscarriage using genetic markers specific to the AMGX, AMGY and SRY genes 2 7 | MPXY-1 | 89.00 | up to 3 weeks |
| CARDIOLOGY | ||||
| Alagille syndrome | NGS analysis of JAG1 and NOTCH2 genes 4 6 | ALGS-NGS | 467.00 | up to 8 weeks |
| Candersartan, Irbesartan, Losartan, Warfarin - activity of the CYP2C9 | Identification of the CYP2C9*2 and *3 variants 4 6 | CYP2C9-1 | 147.00 | up to 5 weeks |
| Cardiomyopathy (hypertrophic and dilated) | Panel of genes known to be associated with hypertrophic, dilated and left ventricular non-compaction. 4 6 | KP-NGS | 844.00 | up to 14 weeks |
| Carvedilol, Codeine, Metoprolol, Propranolol and Timolol - activity of the CYP2D6 | Identification of the CYP2D6*4 and *3 variants 4 6 | CYP2D6-1 | 147.00 | up to 4 weeks |
| Copy number assessment of the CYP2D6 gene by MLPA 6 | CYP2D6-MLPA | 249.00 | up to 6 weeks | |
| Cerebral small vessel disease (CSVD) | NGS analysis of 7 genes related to CSVD: NOTCH3, COL4A1, COL4A2, GLA, HTRA1, APP and TREX1 4 6 | CSVD-NGS | 556.00 | up to 8 weeks |
| Clopidogrel - analysis of the cytochrome CYP2C19 activity | Identification of the CYP2C19*2, *3, *4, *6 and *8 haplotypes. 4 6 | CYP2C19-1 | 147.00 | up to 4 weeks |
| Congenital thrombophilia | Identification of the p.Arg534Gln (V Leiden, R506Q) mutation in the F5 gene and the c.*97G>A (20210G>A) mutation in the F2 gene 4 6 | F5-2 | 100.00 | up to 3 weeks |
| Costello Syndrome | Identification of the most frequent mutations in codons 12 and 13 and other mutations in exon 2 of the HRAS gene 4 6 | COS-1 | 93.00 | up to 3 weeks |
| Ehlers-Danlos syndrome | NGS analysis of ADAMTS2, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, FKBP14, PLOD1, PRDM5, SLC39A13 and ZNF469 genes (according to the International EDS Classification 2017). 4 6 | EDS-NGS | 556.00 | up to 8 weeks |
| Hypercholesterolemia | NGS analysis of LDLR, APOB, PCSK9 and LDLRAP1 genes. 4 6 | FHP-NGS | 422.00 | up to 8 weeks |
| Kabuki syndrome | NGS analysis of KMT2D and KDM6A genes. 4 6 | KABUKI-NGS | 467.00 | up to 8 weeks |
| Long QT syndrome | Long QT Syndrome types 1-3 (LQTS 1-3). NGS analysis of KCNQ1, KCNH2 and SCN5A genes. 4 6 | LQT-NGS | 556.00 | up to 8 weeks |
| Marfan Syndrome | NGS analysis of the FBN1 gene. 4 6 | FBN1-NGS | 467.00 | up to 8 weeks |
| RASopathies | RASopaties, including Noonan syndrome. NGS analysis of 19 genes: BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NF1, NRAS, PPP1CB, PTPN11, RAF1, RIT1, RRAS2, SHOC2, SOS1, SOS2 and SPRED1. 4 6 | RAS-NGS | 556.00 | up to 8 weeks |
| Thoracic Aortic Aneurysms and Aortic Dissections (TAAD) | Screening NGS analysis of 25 genes: ABL1, ACTA2, ADAMTSL4, BGN, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, EFEMP2, ELN, FBN1, FBN2, FLCN, FLNA, LOX, MYH11, MYLK, NOTCH1, PLOD1,SMAD3, TGFB2, TGFBR2, TGFBR1 related to disease 4 6 | TAAD-NGS | 667.00 | up to 8 weeks |
| CYSTIC FIBROSIS | ||||
| Cystic Fibrosis (CF) | Targeted mutation analysis in the CFTR gene - carrier testing for a mutation of choice. 4 6 | CF-0 | 73.00 | up 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 6 | CF-1 | 67.00 | up 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 6 | CF-3 | 220.00 | up to 4 weeks | |
| NGS analysis of the CFTR gene. Identification of over 2000 CFTR gene variants (NGS analysis of all (27) CFTR exons and detection of pathogenic variants c.54-5940_273+10250del21kb (dele2,3(21kb)) and c.3718-2477C>T (3849+10kbC>T). 4 6 | CF-NGS | 489.00 | up to 8 weeks | |
| NEUROLOGY | ||||
| Amyotrophic lateral sclerosis (ALS) | Identification of the (GGGGCC) repeat expansion in the C9orf72 gene 6 | ALS-1 | 191.00 | up to 4 weeks |
| NGS analysis of 30 genes related to ALS: ALS2, ANG, ANXA11, CFAP410, CHCHD10, CHMP2B, DAO, DCTN1, ERBB4, FIG4, FUS, GRN, HNRNPA1, MATR3, NEFH, NEK1, OPTN, PFN1, PRPH, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP. 4 6 | ALS-NGS | 622.00 | up to 8 weeks | |
| Most common motor neuron syndromes. NGS analysis of 2 genes related to ALS: FUS and SOD1, after exclusion the (GGGGCC) repeat expansion in the C9orf72 gene. 4 6 | ALS-SNGS | 378.00 | up to 8 weeks | |
| Aceruloplasminemia | NGS analysis of the CP gene 4 6 | CP-NGS | 467.00 | up to 8 weeks |
| Alzheimer Disease | Early onset disease. NGS analysis of APP, CHCHD10, CHMP2B, CSF1R, FUS, GRN, MAPT, NOTCH3, PRNP, PSEN1, PSEN2, SIGMAR1, SORL1, SQSTM1, TARDBP, TBK1, TREM2, UBQLN2, VCP, genes 4 6 | ALZ-NGS | 667.00 | up to 8 weeks |
| Angelman Syndrome | Analysis of a methylation pattern and deletions in the 15q11-q13 region (MLPA) 6 | ANGEL-1 | 178.00 | up to 8 weeks |
| Sequence analysis of exons 7-16 of the UBE3A gene - supplementary to the ANGEL-1 test 4 6 | ANGEL-2 | 267.00 | up to 8 weeks | |
| Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy - CADASIL | NGS analysis of the NOTCH3 gene. 4 6 | NOTCH3-NGS | 467.00 | up to 8 weeks |
| Cerebral small vessel disease (CSVD) | NGS analysis of 7 genes related to CSVD: NOTCH3, COL4A1, COL4A2, GLA, HTRA1, APP and TREX1 4 6 | CSVD-NGS | 556.00 | up to 8 weeks |
| Congenital central hypoventilation syndrome, CCHS | Sequence analysis of the coding region of the PHOX2B gene 4 6 | PHOX2B-1 | 233.00 | up to 4 weeks |
| Epilepsy | Childhood absence epilepsy (CAE). NGS analysis of 6 genes related to CAE: GABRG2, GABRA1, SLC2A1, JRK, GABRB3 and CACNA1H 4 6 | CAE-NGS | 556.00 | up to 8 weeks |
| Dravet syndrome. NGS analysis of 7 genes related to disease: SCN1A, GABRG2, SCN2A, SCN9A, GABRA1, PCDH19 and STXBP1 4 6 | DRAVET-NGS | 556.00 | up to 8 weeks | |
| Fragile X Syndrome | Analysis of premutation and dynamic mutation in the FMR1 gene - supplementary to FRAX-3 test 1 6 | FRAX-2 | 220.00 | up to 10 weeks |
| Identification of the normal number of (CGG) triplets in the FMR1 gene - a screening test 6 | FRAX-3 | 89.00 | up to 5 weeks | |
| Frontotemporal dementia (FTD) | NGS analysis of 11 genes related to FTD: ANG, CHCHD10, CHMP2B, FUS, GRN, MAPT, PRNP, SQSTM1, TARDBP, UBQLN2, VCP, 4 6 | FTD-NGS | 556.00 | up to 8 weeks |
| Hereditary Sensory and Motor Neuropathies | Charcot-Marie-Tooth Neuropathy Type 1A (CMT1A) and HNPP. Identification of large duplications and deletions in the PMP22 gene using MLPA method 6 | CMT-MLPA | 220.00 | up to 6 weeks |
| CMT1X. Analysis of the coding sequence of the GJB1 gene 4 6 | CMT1X-1 | 89.00 | up to 3 weeks | |
| NGS analysis of over 80 genes (WES-based analysis) 4 6 | HNEUR-NGS | 844.00 | up to 14 weeks | |
| NGS analysis 4 6 | HNEUR-SNGS | 389.00 | up to 14 weeks | |
| Hereditary spastic paraplegia (HSP) | Screening NGS analysis of SPAST, ATL1, KIF5A, REEP1, SPG11, CYP7B1 and KIF1A genes 4 6 | SPG-NGS1 | 556.00 | up to 8 weeks |
| Screening WES analysis of adult disease-related genes. 4 6 | SPG-NGS3 | 844.00 | up to 14 weeks | |
| Identification of large deletions i duplications in the SPAST and ATL1 genes using MLPA method 6 | SPG4-MLPA | 220.00 | up to 8 weeks | |
| Identification of large deletions i duplications in the SPG7 and REEP1 genes using MLPA method 6 | SPG7-MLPA | 220.00 | up to 8 weeks | |
| Homocystinuria | NGS analysis of the CBS gene 4 6 | CBS-NGS | 467.00 | up to 8 weeks |
| Kabuki syndrome | NGS analysis of KMT2D and KDM6A genes. 4 6 | KABUKI-NGS | 467.00 | up to 8 weeks |
| Krabbe Disease | Identification of the IVS10del30kb deletion in the GALC gene 4 6 | GALC-1 | 87.00 | up to 3 weeks |
| NGS analysis of the GALC gene. 4 6 | GALC-NGS | 467.00 | up to 8 weeks | |
| Leukodystrophy | Adrenoleucodystrophy. Sequence analysis of the coding region of the ABCD1 gene 4 6 | ALD-1 | 422.00 | up to 6 weeks |
| Metachromatic leukodystrophy. NGS analysis of genes ARSA and PSAP related to MLD 4 6 | MLD-NGS | 467.00 | up to 8 weeks | |
| Mitochondrial Diseases | NGS analysis of the mitochondrial genome 6 | mtDNA-NGS | 267.00 | up to 8 weeks |
| Muscular Dystrophy | Limb-Girdle Muscular Dystrophy type 2A (LGMD2A). Identification of the most frequent: c.550delA i p.Arg490Gln and other mutations in exons 4 i 11 of the CAPN3 gene 4 6 | CAPN3-1 | 122.00 | up to 3 weeks |
| Limb-Girdle Muscular Dystrophy type 2A (LGMD2A). NGS analysis of the CAPN3 gene. 4 6 | CAPN3-NGS | 356.00 | up to 14 weeks | |
| Duchenne/Becker muscular dystrophy (DMD/BMD). Identification of large deletions/duplications in the DMD gene using MLPA method 1 6 | DMD-MLPA | 220.00 | up to 6 weeks | |
| Duchenne/Becker muscular dystrophy (DMD/BMD). NGS analysis of DMD gene. 4 6 | DMD-NGS | 356.00 | up to 14 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, WES-based analysis 4 6 | LGMD-NGS | 844.00 | up to 14 weeks | |
| Myotonia | 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 6 | DM1/DM2 | 256.00 | up to 10 weeks |
| Neurodegeneration with brain iron accumulation (NBIA) | NGS analysis of PPANK2, WDR45, PLA2G6, C19orf12, FTL and CP genes 4 6 | NBIA-NGS | 556.00 | up to 8 weeks |
| Neurofibromatosis | Neurofibromatosis type I, II and Legius syndrome. NGS analysis of NF1, NF2 and SPRED1 genes. 4 6 | NF-NGS | 422.00 | up to 8 weeks |
| Neurofibromatosis type I (von Recklinghausen`s Disease). Identification of large deletions and insertions in the NF1 gene using MLPA method 1 6 | NF1-MLPA | 220.00 | up to 6 weeks | |
| Neurofibromatosis type II. Identification of large deletions and insertions in the NF2 gene using MLPA method gene using MLPA method 1 6 | NF2-MLPA | 220.00 | up to 8 weeks | |
| Neuronal ceroid lipofuscinosis | CLN2 disease, classic late infantile. Identification of the most frequent p.Arg208*, c.509-1G>C (IVS5-1G>C) and other mutations in exons 5 and 6 of the TPP1 gene 4 6 | CLN2-1 | 80.00 | up to 3 weeks |
| CLN3 disease, classic juvenile. Identification of the most frequent CLN3 deletion 4 6 | CLN3-1 | 133.00 | up to 3 weeks | |
| Niemann-Pick Disease type A, B and C | NGS analysis of the coding region the NPC1, NPC2 and SMPD1 genes 4 6 | NPC-NGS | 556.00 | up to 8 weeks |
| Oculopharyngeal Muscular Dystrophy | Screening for (GCN)n expansion in PABPN1 gene 4 6 | PABPN1-1 | 109.00 | up to 4 weeks |
| Parkinson disease | Sequence analysis of the coding region of over 20 respective genes, including PRKN and PARK7 | PARK-NGS | 844.00 | up to 14 weeks |
| Pompe disease | NGS analysis of the coding region of the GAA gene 4 6 | GAA-NGS | 467.00 | up to 8 weeks |
| Prader-Willi Syndrome | Analysis of methylation pattern and deletions in the 15q11-q13 region1 6 | PWS-1 | 178.00 | up to 8 weeks |
| Refsum Disease | Screening NGS analysis of PEX7 and PHYH genes. 4 6 | REFS-NGS | 467.00 | up to 8 weeks |
| Rett Syndrome | Sequence analysis of the coding region of the MECP2 gene 4 6 | RETT-1 | 133.00 | up to 3 weeks |
| Screening NGS analysis of the MECP2, CDKL5, FOXG1 and UBE3A genes. 4 6 | RETT-NGS | 556.00 | up to 8 weeks | |
| Segawa syndrome | NGS analysis of the GCH1 (GTPCH1) gene. 4 6 | DRD-NGS | 467.00 | up to 8 weeks |
| Smith-Lemli-Opitz Syndrome | Identification of p.Trp151*, p.Val326Leu, p.Leu157Pro, p.Arg353Trp, IVS8-1G>C, p.Arg446Gln and other mutations in the exons 4,6 and 9 of the DHCR7 gene 4 6 | SLOS-1 | 156.00 | up to 4 weeks |
| Sotos syndrome | NGS analysis of analysis of the NSD1 gene. 4 6 | NSD1-NGS | 467.00 | up 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 6 | SBMA-1 | 89.00 | up to 3 weeks |
| Spinal Muscular Atrophy | Identification of the exon 7 and 8 deletion in the SMN1 gene - carrier testing and SMN1/SMN2 copy number assessment. 6 | SMA-2 | 158.00 | up to 4 weeks |
| Sequence analysis of the coding region of the SMN1 gene 1 4 6 | SMA-3 | 207.00 | up to 8 weeks | |
| Tuberous sclerosis | Screening NGS analysis of TSC1 and TSC2 genes. 4 6 | TSC-NGS | 467.00 | up to 8 weeks |
| OPHTHALMOLOGY | ||||
| Alagille syndrome | NGS analysis of JAG1 and NOTCH2 genes 4 6 | ALGS-NGS | 467.00 | up to 8 weeks |
| Alport syndrome | NGS analysis of COL4A3, COL4A4 and COL4A5 genes. 4 6 | AS-NGS | 556.00 | up to 8 weeks |
| Corneal dystrophy | Corneal dystrophy. NGS analysis of 14 genes: AGBL1, CHST6, COL8A2, DCN, GRHL2, KRT12, KRT3, OVOL2, SLC4A11, TACSTD2, TGFBI, UBIAD1, VSX1 i ZEB1. 4 6 | CORNEA-NGS | 556.00 | up to 8 weeks |
| Developmental anomalies affecting the eye | Developmental anomalies affecting the eye. NGS analysis of 78 genes: AASS, ABCB6, ADAMTS10, ADAMTS17, ADAMTSL4, ALDH1A3, ASPH, ATOH7, BCOR, B3GLCT, BMP4, CAPN5, CHD7, CBS, COL2A1, COL4A1, COL8A2, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, COL18A1, CPAMD8, CYP1B1, EYA1, FBN1, FGFR1, FOXC1, FOXE3, FREM1, FZD4, GDF3, GDF6, HCCS, HESX1, HMGB3, HMX1, JAG1, KCNJ13, KIF11, LRP5, LTBP2, MAB21L2, MFRP, NDP, NOTCH2, OTX2, P3H2, PAX2, PAX6, PIGL, PITX2, PITX3, PORCN, PROKR2, PRSS56, PXDN, RARB, RAX, RBP4, SHH, SIX6, SLC38A8, SMOC1, SOX2, SOX3, STRA6, SUOX, TEK,TENM3, TMEM98, TSPAN12, VAX1, VCAN, VSX1, VSX2, ZNF408. 4 6 | OKUM-NGS | 578.00 | up to 8 weeks |
| Eye diseases | Type I Stargardt Disease. NGS sequence and CNV analysis of the ABCA4 gene. 4 6 | STARG-NGS | 467.00 | up to 8 weeks |
| Homocystinuria | NGS analysis of the CBS gene 4 6 | CBS-NGS | 467.00 | up to 8 weeks |
| Marfan Syndrome | NGS analysis of the FBN1 gene. 4 6 | FBN1-NGS | 467.00 | up to 8 weeks |
| Mitochondrial Diseases | NGS analysis of the mitochondrial genome 6 | mtDNA-NGS | 267.00 | up to 8 weeks |
| NGS analysis of 24 genes related to albinism and hypopigmentation | NGS analysis of 30 genes related to albinism and hypopigmentation: AP3B1, AP3D1, BLOC1S3, BLOC1S5, BLOC1S6, CACNA1F, DTNBP1, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LRMDA, LYST, MC1R, MITF, OCA2, PAX3, RAB27A, SLC24A5, SLC45A2, TYR, TYRP1 4 6 | OCA-NGS | 556.00 | up to 8 weeks |
| Optic atrophy | Optic atrophy. NGS analysis of 30 genes: ACO2, AFG3L2, ANTXR1, ATP1A3, C12orf65, CISD2, DNAJC30, DNM1L, FDXR, MCAT, MFF, MFN2, MIEF1, NBAS, NDUFS4, NR2F1, OPA1, OPA3, PDXK, PRPS1, RTN4IP1, SDHA, SLC25A46, SPG7, SSBP1, TIMM8A, TMEM126A, WFS1, YME1L1, ZNHIT 4 6 | OKUA-NGS | 533.00 | up to 8 weeks |
| Refsum Disease | Screening NGS analysis of PEX7 and PHYH genes. 4 6 | REFS-NGS | 467.00 | up to 8 weeks |
| Retinal dystrophy | NGS analysis of over 250 disease related genes 4 6 | RETIN-NGS | 844.00 | up to 14 weeks |
| Retinal dystrophy | Retinal dystrophy. NGS analysis of more than 300 dystrophy-related genes, including CNV analysis. 4 6 | OKU-NGS | 711.00 | up to 12 weeks |
| ONCOLOGY | ||||
| Bloom Syndrome | NGS analysis of the BLM gene. | BLM-NGS | 467.00 | up to 8 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 6 | CHEK2-1 | 116.00 | up to 4 weeks |
| Diffuse Gastric Cancer | NGS analysis of the CDH1 gene. 4 6 | CDH-NGS | 467.00 | up to 8 weeks |
| Familial Medullary Thyroid Carcinoma (FMTC) | Sequence analysis of exons 10, 11, 13, 14, 15, and 16 of the RET gene 4 6 | RET-1 | 239.00 | up to 4 weeks |
| Hereditary breast/ovarian cancer | For patients with familial cancer - testing for hereditary breast, ovarian and prostate cancer. NGS analysis of BRCA1 and BRCA2 genes. 4 6 | BRCA-NGS | 467.00 | up to 8 weeks |
| 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)) 4 6 | BRCA1-1 | 133.00 | up to 3 weeks | |
| Inherited polyposes | Familial Adenomatous Polyposis (FAP). Identification of the 4 most frequent mutations in the APC gene: c.3927_3931delAAAGA, c.3183_3187delACAAA, c.3202_3205delTCAA, p.Tyr500* and other mutations in exon 14 and analysed fragment of exon 18 of the APC gene 4 6 | APC-1 | 133.00 | up to 4 weeks |
| Adenomatous polyposis (FAP, MAP, juvenile). Screening NGS analysis of APC, MUTYH, BMPR1A and SMAD4 genes 4 6 | POLYP-NGS | 556.00 | up to 8 weeks | |
| Li-Fraumeni Syndrome | Sequence analysis of the TP53 gene 4 6 | TP53-NGS | 467.00 | up to 8 weeks |
| Lynch syndrome, hereditary non-polyposis colorectal cancer (HNPCC) | NGS analysis of MLH1, MSH2, MLH3, MSH6 and PMS2 genes 4 6 | HNPCC-NGS | 556.00 | up to 8 weeks |
| Multiple Endocrine Neoplasia | Multiple endocrine neoplasia type 2 (MEN2A and MEN2B). Sequence analysis of exons 10, 11, 13, 14, 15, and 16 of of the RET gene 4 6 | MEN-1 | 217.00 | up to 4 weeks |
| Multiple endocrine neoplasia type 1. Sequence analysis of the coding region of the MEN1 gene 4 6 | MEN-2 | 440.00 | up to 8 weeks | |
| Multiple endocrine neoplasia type 1 (MEN1) i type 2 (MEN2A and MEN2B). NGS analysis of MEN1 and RET genes. 4 6 | MEN-NGS | 467.00 | up to 8 weeks | |
| Multiple osteochondromas | Sequence analysis of the coding region of the EXT1 and EXT2 genes 4 6 | MO-NGS | 467.00 | up to 8 weeks |
| Neurofibromatosis | Neurofibromatosis type I, II and Legius syndrome. NGS analysis of NF1, NF2 and SPRED1 genes. 4 6 | NF-NGS | 422.00 | up to 8 weeks |
| Neurofibromatosis type I (von Recklinghausen`s Disease). Identification of large deletions and insertions in the NF1 gene using MLPA method 1 6 | NF1-MLPA | 220.00 | up to 6 weeks | |
| Neurofibromatosis type II. Identification of large deletions and insertions in the NF2 gene using MLPA method gene using MLPA method 1 6 | NF2-MLPA | 220.00 | up 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 6 | NBS-1 | 89.00 | up to 4 weeks |
| Peutz-Jeghers syndrome | Screening NGS analysis of the STK11 gene. 4 6 | STK11-NGS | 467.00 | up to 8 weeks |
| Retinoblastoma | Screening NGS analysis of the RB1 gene. 4 6 | RB1-NGS | 467.00 | up to 8 weeks |
| Screening NGS panel for hereditary cancers | For patients with familial cancer - NGS analysis of the whole coding sequence of 90 hereditary cancer-related genes 4 6 | ONKO-MAX | 622.00 | up to 8 weeks |
| Screening NGS panel for somatic variants in breast cancer | Screening 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 6 | ONKO-SOMATIC | 667.00 | contact us |
| von Hippel-Lindau Syndrome (Familial Cerebelloretinal Angiomatosis) | Sequence analysis of the coding region of the VHL gene 4 6 | VHL-1 | 144.00 | up to 3 weeks |
| ORTHOPAEDICS | ||||
| Achondroplasia | Identification of the p.Gly380Arg mutation and other mutations in exon 10 fragment of the FGFR3 gene 4 6 | ACH-1 | 73.00 | up to 3 weeks |
| Alagille syndrome | NGS analysis of JAG1 and NOTCH2 genes 4 6 | ALGS-NGS | 467.00 | up to 8 weeks |
| Alport syndrome | NGS analysis of COL4A3, COL4A4 and COL4A5 genes. 4 6 | AS-NGS | 556.00 | up to 8 weeks |
| Ankylosing spondylitis (Bechterews disease) | Determination of the HLA-B27 allele presence 1 4 6 | HLA-2 | 84.00 | up to 4 weeks |
| Apert Syndrome | Identification of p.Ser252Trp, p.Pro253Arg, c.755_756delCGinsTT and other mutations in exon 8 of the FGFR2 gene 4 6 | APS-1 | 93.00 | up to 3 weeks |
| Crouzon Syndrome | Sequence analysis of exons 8 and 10 of the FGFR2 gene 4 6 | CROUZ-1 | 147.00 | up to 3 weeks |
| Ehlers-Danlos syndrome | NGS analysis of ADAMTS2, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, FKBP14, PLOD1, PRDM5, SLC39A13 and ZNF469 genes (according to the International EDS Classification 2017). 4 6 | EDS-NGS | 556.00 | up to 8 weeks |
| Homocystinuria | NGS analysis of the CBS gene 4 6 | CBS-NGS | 467.00 | up to 8 weeks |
| Hypochondroplasia | Identification of the common hypochondroplasia pathogenic variants c.1620C>A and c.1620C>G -> p.(Asn540Lys) { N540K} in the FGFR3 gene 4 6 | HYPOCH-1 | 100.00 | up to 3 weeks |
| Klippel-Feil syndrome | NGS analysis of GDF6, GDF3 and MEOX1 genes. 4 6 | KFS-NGS | 556.00 | up to 8 weeks |
| Marfan Syndrome | NGS analysis of the FBN1 gene. 4 6 | FBN1-NGS | 467.00 | up to 8 weeks |
| McCune-Albright syndrome | Identification of the p.Arg201His, p.Arg201Cys, p.Gln227Leu and other variants in exons 8-9 of the GNAS gene in the affected tissue 4 6 | GNAS-1 | 100.00 | up to 3 weeks |
| Muenke Syndrome | Identification of the p.Pro250Arg mutation in the exon 7 of the FGFR3 gene 4 6 | MUE-1 | 89.00 | up to 3 weeks |
| Multiple osteochondromas | Sequence analysis of the coding region of the EXT1 and EXT2 genes 4 6 | MO-NGS | 467.00 | up to 8 weeks |
| Osteogenesis Imperfecta | NGS analysis of COL1A1 and COL1A2genes. 4 6 | OI-NGS | 467.00 | up to 8 weeks |
| Pfeiffer Syndrome | Identification of the most frequent p.Pro252Arg mutation in exon 7 of the FGFR1 gene 4 6 | PFE-1 | 89.00 | up to 3 weeks |
| Psoriasis | Identification of the HLA-Cw6 haplotype1 4 6 | HLA-1 | 84.00 | up to 4 weeks |
| Thanatophoric dysplasia type I | Identification of the most frequent mutations: p.Arg248Cys, p.Tyr373Cys and other mutations in exons 7 and 10 of the FGFR3 gene 6 7 | DTAN-1 | 147.00 | up to 3 weeks |
| GENOMIC RESEARCH | ||||
| Clinical exome | Whole exome sequencing (WES) with the subsequent analysis restricted to the clinical problem. Positive results (SNVs and InDels) are confirmed by Sanger sequencing and variant segregation is analysed if parental samples are available. 4 6 | EXOME-1 | 933.00 | up to 14 weeks |
| Re-analysis of the whole exome sequencing data obtained using the EXOME-1 test (WES) | EXOME-2 | 289.00 | contact us | |
| Clinical Exome MAXIMUM Whole exome sequencing (WES) with the analysis restricted to the clinical problem. The analysis covers detection of CNVs and clinically relevant variants in non-coding regions, and in the mitochondrial genome. Positive results are confirmed by a reference method. Variant segregation is analysed if DNA samples of parents or 1st degree cousins are available. 4 6 | EXOME-MAX | 1200.00 | up to 14 weeks | |
| Clinical Exome MAXIMUM TRIO Whole exome sequencing (WES) for the patient and her/his parents with the analysis restricted to the clinical problem. The analysis covers detection of CNVs and clinically relevant variants in non-coding regions, and in the mitochondrial genome. Positive results are confirmed by a reference method. 4 6 | EXOME-TRIO | 2444.00 | up to 14 weeks | |
| Hereditary Sensory and Motor Neuropathies | Charcot-Marie-Tooth Neuropathy Type 1A (CMT1A) and HNPP. Identification of large duplications and deletions in the PMP22 gene using MLPA method 6 | CMT-MLPA | 220.00 | up to 6 weeks |
| CMT1X. Analysis of the coding sequence of the GJB1 gene 4 6 | CMT1X-1 | 89.00 | up to 3 weeks | |
| NGS analysis of over 80 genes (WES-based analysis) 4 6 | HNEUR-NGS | 844.00 | up to 14 weeks | |
| NGS analysis 4 6 | HNEUR-SNGS | 389.00 | up to 14 weeks | |
| Inborn metabolic disorders | NGS analysis of over 600 genes (WES-based panel) 4 6 | IMD-NGS | 844.00 | up to 14 weeks |
| NGS analysis of 34 genes related to hyperammonemia, including urea cycle disorders: ACADM, ACADS, ACADVL, ALDH18A1, ARG1, ASL, ASS1, BCKDHA, BCKDHB, CPS1, CPT1A, CPT2, DBT, ETFA, ETFB, ETFDH, GLUD1, HADHA, HADHB, HLCS, HMGCL, IVD, MCCC1, MCCC2, MMAA, MMAB, MUT, NAGS, OTC, PCCA, PCCB, SLC22A5, SLC25A13, SLC25A20 4 6 | UREA-NGS | 667.00 | up to 8 weeks | |
| Leukodystrophy | Adrenoleucodystrophy. Sequence analysis of the coding region of the ABCD1 gene 4 6 | ALD-1 | 422.00 | up to 6 weeks |
| Metachromatic leukodystrophy. NGS analysis of genes ARSA and PSAP related to MLD 4 6 | MLD-NGS | 467.00 | up to 8 weeks | |
| Mitochondrial Diseases | NGS analysis of the mitochondrial genome 6 | mtDNA-NGS | 267.00 | up to 8 weeks |
| Myotonia | 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 6 | DM1/DM2 | 256.00 | up to 10 weeks |
| Neuromuscular diseases | NGS analysis of over 550 genes (WES-based analysis). 4 6 | NMD-NGS | 844.00 | up to 14 weeks |
| Newborn screening | INFANO - NGS screening for infants and little children covering over 70 genetic disorders for which prophylactic or treatment options are available. Testing includes metabolic diseases, early age cancers, cardiac arrhythmias, malignant hyperthermia. 4 6 | INFANO | 533.00 | up to 8 weeks |
| Parkinson disease | Sequence analysis of the coding region of over 20 respective genes, including PRKN and PARK7 | PARK-NGS | 844.00 | up to 14 weeks |
| Prophylactic Whole Genome Analysis | Whole-genome sequencing (WGS). Bioinformatic analysis of whole genome data. 4 6 | GENOM-S | 1556.00 | up to 11 weeks |
| Retinal dystrophy | NGS analysis of over 250 disease related genes 4 6 | RETIN-NGS | 844.00 | up to 14 weeks |
| Screening NGS panel for hereditary cancers | For patients with familial cancer - NGS analysis of the whole coding sequence of 90 hereditary cancer-related genes 4 6 | ONKO-MAX | 622.00 | up to 8 weeks |
| OTHER | ||||
| Additional services | Any marker or mutation from the GENOMED offer, except MLPA 4 6 | INNE-1 | 78.00 | contact us |
| Biobanking (up to 5 years). 4 6 | INNE-5 | 22.00 | contact us | |
| CCR5 genotyping - prognosis of susceptibility to HIV infection | Identification of the c.554_585del32 variant in the CCR5 gene 4 6 | CCR5-1 | 89.00 | up to 3 weeks |
| Clinical exome | Whole exome sequencing (WES) with the subsequent analysis restricted to the clinical problem. Positive results (SNVs and InDels) are confirmed by Sanger sequencing and variant segregation is analysed if parental samples are available. 4 6 | EXOME-1 | 933.00 | up to 14 weeks |
| Re-analysis of the whole exome sequencing data obtained using the EXOME-1 test (WES) | EXOME-2 | 289.00 | contact us | |
| Clinical Exome MAXIMUM Whole exome sequencing (WES) with the analysis restricted to the clinical problem. The analysis covers detection of CNVs and clinically relevant variants in non-coding regions, and in the mitochondrial genome. Positive results are confirmed by a reference method. Variant segregation is analysed if DNA samples of parents or 1st degree cousins are available. 4 6 | EXOME-MAX | 1200.00 | up to 14 weeks | |
| Clinical Exome MAXIMUM TRIO Whole exome sequencing (WES) for the patient and her/his parents with the analysis restricted to the clinical problem. The analysis covers detection of CNVs and clinically relevant variants in non-coding regions, and in the mitochondrial genome. Positive results are confirmed by a reference method. 4 6 | EXOME-TRIO | 2444.00 | up to 14 weeks | |
| Lymphocyte Karyotype | Analysis of quantitative and qualitative chromosome aberrations using classical cytogenetic methods 1 3 | KAR-1 | 120.00 | up to 5 weeks |
| Analysis of quantitative and qualitative chromosome aberrations using classical cytogenetic methods for both parents 1 3 | KAR-2 | 111.00 | up to 5 weeks | |
| Microdeletion Syndromes | Microdeletion syndromes analysis: 1p36, 2p16, 2q23/MBD5, 2q33/SATB2, 3q29, 9q22.3, 15q24, 17q21, 22q13/Phelan-McDermid, 5p15 (Cri du Chat syndrome), 22q11 (DiGeorge syndrome), 22q11 dystal region, 10p15, 8q (Langer-Giedion syndrome), 17p (Miller-Dieker syndrome), NF1, Prader-Willi/ Angelman syndrome, MECP2 duplication / Xq28, Rubinstein-Taybi syndrome, Smith-Magenis syndrome, 5q35.3 (Sotos syndrome), Williams syndrome, 4p16.3 (Wolf-Hirschhorn syndrome) by MLPA 1 6 | MICDEL-1 | 171.00 | up to 5 weeks |
| Microdeletion syndromes analysis: 1q21.1 (TAR), 1q21.1 (distal), 3q29, 15q13, 15q24, 16p13.11, 16p12.1-p11.2, 16p11.2, (proximal and distal), 17q12) by MLPA 1 6 | MICDEL-2 | 171.00 | up to 5 weeks | |
| Molecular karyotype (array CGH) | Identification of genome dosage imbalances (aneuploidies, deletions, duplications, unbalanced translocations) with array CGH method 1 4 6 7 | aCGH-1 | 433.00 | up to 4 weeks |
| Newborn screening | INFANO - NGS screening for infants and little children covering over 70 genetic disorders for which prophylactic or treatment options are available. Testing includes metabolic diseases, early age cancers, cardiac arrhythmias, malignant hyperthermia. 4 6 | INFANO | 533.00 | up to 8 weeks |
| Prenatal diagnostics | Non-invasive genetic prenatal test for the fetal trisomy 21,18 and 13, aneuploidy of sex chromosomes and chromosomal aberrations (SANCO) | NIPT-1 | 440.00 | up to 1 week |
| Sex Determination | Analysis of genetic markers specific to the AMGX, AMGY and SRY genes 4 6 | SRY-1 | 67.00 | up to 3 weeks |
| Sex determination of miscarriage material | Analysis of tissue from the miscarriage using genetic markers specific to the AMGX, AMGY and SRY genes 2 7 | MPXY-1 | 89.00 | up to 3 weeks |
| Attention!!! It is possible to modify the diagnostic panel depending on the patient’s individual needs. In such cases, please call or contact us via email. There is also a possibility of working out a diagnostic set for any given congenital disease depending on the customer’s requirements. |
| 1 Tests performed in a certified laboratory cooperating with the Genomed Healthcare Center |
| 2 Testing performed on paraffin-embedded (FFPE) tissue blocks |
| 3 Tests carried out using blood previously collected into a heparin containing tube |
| 4 Tests carried out using saliva (Norgen kit) |
| 5 Tests performed using a dried blood spot (blood spot kit) |
| 6 Tests performed using DNA isolated from full venous blood |
| 7 Testing performed on trophoblast sample |
| Gene symbols and names according to the HUGO Gene Nomenclature Committee (HGNC).
Variant nomenclature according to the Human Genome Variation Society (HGVS) v.19.01. Exons are numbered according to the HGMD reference sequence and the full human genome (hg38). Variant interpretation according to the American College of Medical Genetics and Genomics (ACMG). NGS pathogenic variants confirmed by Sanger. |
| Genomed S.A., ul. Ponczowa 12, 02-971 Warszawa, Poland, Company registered by the District Court for the city of Warszawa in Warszawa,13th Commercial Division, National Court Register No. 0000374741 . Share capital PLN 132 130.10, VAT No. PL7010083563, National /Business Registry Number/ 141108082 |