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 - December 2020

Disease	Test description	Test code	Price [EUR]	Turnaround time
AUDIOLOGY
Alport syndrome	NGS analysis of COL4A3, COL4A4 and COL4A5 genes. ⁴ ⁶	AS-NGS	595.00	up to 8 weeks
Deafness and Hereditary Hearing Loss	NGS analysis of over 60 genes (custom panel) ⁴ ⁶	DFN-NGS	857.00	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	89.00	up to 3 weeks
	Deletion/duplication analysis of the GJB2, GJB3, GJB6, WFS1 and POU3F4 genes ⁶	GJB2-MLPA	214.00	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	43.00	up to 3 weeks
ENDOCRINOLOGIC DISEASES
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	378.00	up to 4 weeks
Thyroid Hormone Resistance	Sequence analysis of exons 7-10 of the THRB gene ⁴ ⁶	THRB-1	157.00	up to 3 weeks
METABOLIC DISEASES
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY	Identification of the p.Ser113Leu mutation in the CPT2 gene ⁴ ⁶	CPT2-1	71.00	up to 4 weeks
Cystinosis	Identification of homozygous 57kb deletion in the CTNS gene - clinical outcome verification ⁴ ⁶	CTNS-1	143.00	up to 3 weeks
Fabry disease	Sequence analysis of the whole coding region of the GLA gene ⁴ ⁶	GLA-3	286.00	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	107.00	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	157.00	up to 3 weeks
Inborn metabolic disorders	NGS analysis of over 150 genes (custom NGS panel) ⁴ ⁶	IMD-NGS	857.00	up to 14 weeks
Inborn metabolic disorders	NGS analysis of 27 genes related to hyperammonemia, including urea cycle disorders: ACADM, ACADS, ACADVL, ARG1, ASL, ASS1, BCKDHA, BCKDHB, CPT1A, CPT2, DBT, ETFA, ETFB, ETFDH, HADHA, HLCS, HMGCL, IVD, MCCC1, MCCC2, MMAA, MMAB, MUT, OTC, PCCA, PCCB, SLC22A5 ⁴ ⁶	UREA-NGS	619.00	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	71.00	up to 3 weeks
McCune-Albright syndrome	Identification of the p.Arg201His, p.Arg201Cys, p.Gln227Leu and other variants in exons 7-9 of the GNAS gene in the affected tissue ⁴ ⁶	GNAS-1	91.00	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	96.00	up to 3 weeks
Mitochondrial Diseases	NGS analysis of the mitochondrial genome ⁶	mtDNA-NGS	238.00	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	619.00	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	77.00	up to 3 weeks
Neuronal ceroid lipofuscinosis	CLN3 disease, classic juvenile. Identification of the most frequent CLN3 deletion ⁴ ⁶	CLN3-1	114.00	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	571.00	up to 6 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	667.00	up to 8 weeks
Nonketotic Hyperglycinemia	Sequence analysis of the coding region of the GLDC, AMT, GCSH genes ⁴ ⁶	NHG-NGS	595.00	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	107.00	up to 3 weeks
Pompe disease	NGS analysis of the coding region of the GAA gene ⁴ ⁶	GAA-NGS	529.00	up to 8 weeks
Responsible parenthood	Carrier testing for future parents - genetic risk assessment (1700 genes included). ⁴ ⁶	STID-NGS	714.00	up to 12 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	129.00	up to 4 weeks
Trimethylaminuria (Fish Odor Syndrome)	Sequence analysis of the coding region of the FMO3 gene ⁴ ⁶	FMO3-1	432.00	up to 4 weeks
DERMATOLOGY
BRAF Gene Testing	Identification 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 ²	BRAF-1	114.00	up 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 ⁶	CLOU-1	79.00	up to 3 weeks
Ichthyosis simplex/Atopic Dermatitis	Identification of the p.Arg501, c.2282_2285del4 and other mutations in the exon 3 of the FLG* gene ¹ ⁴ ⁶	FLG-1	143.00	up to 6 weeks
Job Syndrome (Hyper-IgE Syndrome)	Screening NGS analysis of the DOCK8, SPINK5, STAT3, TYK2 genes. ⁴ ⁶	HIGE-NGS	595.00	up to 8 weeks
McCune-Albright syndrome	Identification of the p.Arg201His, p.Arg201Cys, p.Gln227Leu and other variants in exons 7-9 of the GNAS gene in the affected tissue ⁴ ⁶	GNAS-1	91.00	up to 3 weeks
Netherton Syndrome	Screening NGS analysis of the SPINK5 gene. ⁴ ⁶	SPINK5-NGS	536.00	up to 8 weeks
Neurofibromatosis	Neurofibromatosis type I, II and Legius syndrome. NGS analysis of NF1, NF2 and SPRED1 genes. ⁴ ⁶	NF-NGS	595.00	up to 8 weeks
	Neurofibromatosis type I (von Recklinghausen`s Disease). Identification of large deletions and insertions in the NF1 gene using MLPA method ⁶	NF1-MLPA	214.00	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	236.00	up to 8 weeks
Psoriasis	Identification of the HLA-Cw6 haplotype¹ ⁴ ⁶	HLA-1	67.00	up to 4 weeks
PHARMACOGENETICS
BRAF Gene Testing	Identification 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 ²	BRAF-1	114.00	up to 4 weeks
Candersartan, Irbesartan, Losartan, Warfarin - activity of the CYP2C9	Identification of the CYP2C92 and 3 variants ⁴ ⁶	CYP2C9-1	157.00	up to 5 weeks
Carvedilol, Codeine, Metoprolol, Propranolol and Timolol - activity of the CYP2D6	Identification of the CYP2D6*4 variant ⁴ ⁶	CYP2D6-1	100.00	up to 4 weeks
	Copy number assessment of the CYP2D6 gene by MLPA ⁶	CYP2D6-MLPA	243.00	up to 6 weeks
Clopidogrel - analysis of the cytochrome CYP2C19 activity	Identification of the CYP2C192, 4 and *8 variants. ⁴ ⁶	CYP2C19-1	157.00	up to 4 weeks
EGFR Gene Testing	Sequence analysis of selected EGFR gene regions (exons 20-23 (legacy No 18-21) for targeted therapy ²	EGFR-1	186.00	up to 3 weeks
KRAS gene analysis	Sequence analysis of exon 2-4 of the KRAS gene prior to targeted therapy in colorectal cancer (identification of codon 12 and 13 mutations) ²	KRAS-1	171.00	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	VIP ONKO-SOMATIC	714.00	contact us
Warfarin - identification of genotype related to VKOR enzymatic activity	Identification of the rs9934438:C>T (1173C>T) variant in the VKORC1 gene ⁴ ⁶	VKORC1-1	100.00	up to 4 weeks
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	96.00	up to 3 weeks
Alpha1-Antitrypsin Deficiency	Sequence analysis of the coding region of the SERPINA1 gene ⁴ ⁶	AAT-3	161.00	up to 4 weeks
Coeliac disease	Identification of the HLA-DQ2 and DQ8 haplotypes¹ ⁴ ⁶	CELIAKIA-1	95.00	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	263.00	up to 4 weeks
Diffuse Gastric Cancer	NGS analysis of the CDH1 gene. ⁴ ⁶	CDH-NGS	530.00	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	86.00	up to 3 weeks
Gilbert Syndrome	Analysis of the number of repeats (TA)n in the UGT1A1 gene promoter ⁴ ⁶	UGT-1	54.00	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	96.00	up to 3 weeks
Haemochromatosis	NGS analysis of HFE, HJV, HAMP, TFR2 and SLC40A1 genes. ⁴ ⁶	HFE-NGS	619.00	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	125.00	up to 4 weeks
Inherited polyposes	Adenomatous polyposis (FAP, MAP, juvenile). Screening NGS analysis of APC, MUTYH, BMPR1A and SMAD4 genes ⁴ ⁶	POLYP-NGS	595.00	up to 8 weeks
KRAS gene analysis	Sequence analysis of exon 2-4 of the KRAS gene prior to targeted therapy in colorectal cancer (identification of codon 12 and 13 mutations) ²	KRAS-1	171.00	up to 4 weeks
Lactase Persistence (Adult-Type Hypolactasia)	Analysis of the c.-13907C>T(-13910C>T) variant in the LCT gene ⁴ ⁶	LCT-1	71.00	up to 3 weeks
Lynch syndrome, hereditary non-polyposis colorectal cancer (HNPCC)	NGS analysis of MLH1, MSH2, MLH3, MSH6 and PMS2 genes ⁴ ⁶	HNPCC-NGS	595.00	up 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 ⁶	ZT-2	175.00	up to 4 weeks
Pancreatitis (acute and chronic)	NGS analysis of the coding sequence of disease-related genes: PRSS1, SPINK1, CFTR, CTRC, CASR and CPA1 ⁴ ⁶	ZT-NGS	595.00	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	61.00	up to 3 weeks
Wilson Disease	NGS analysis of the ATP7B gene. ⁴ ⁶	WD-NGS	536.00	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-1	400.00	up to 4 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	378.00	up to 4 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	129.00	up to 3 weeks
	Analysis of microdeletions in the AZF region of the Y chromosome (analysis of 6 loci) ⁴ ⁶	NP-2	89.00	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	286.00	up to 4 weeks
Lymphocyte Karyotype	Analysis of quantitative and qualitative chromosome aberrations using classical cytogenetic methods ^{1 3}	KAR-1	117.00	up to 4 weeks
Lymphocyte Karyotype	Analysis of quantitative and qualitative chromosome aberrations using classical cytogenetic methods for both parents ^{1 3}	KAR-2	229.00	up to 4 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	464.00	up to 4 weeks
Premature Ovarian Failure	Identification of the normal number of (CGG) triplets in the FMR1 gene - screening test ⁴ ⁶	POF-1	71.00	up to 3 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	89.00	up to 3 weeks
Recurrent Pregnancy Loss	Identyfication of the M2 haplotype in the promotor region of the ANXA5 gene. ⁴ ⁶	POR-4	86.00	up to 3 weeks
Responsible parenthood	Carrier testing for future parents - genetic risk assessment (1700 genes included). ⁴ ⁶	STID-NGS	714.00	up to 12 weeks
Sex Determination	Analysis of genetic markers specific to the AMGX, AMGY and SRY genes ⁴ ⁶	SRY-1	57.00	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	71.00	up to 3 weeks
CARDIOLOGY
Alagille syndrome	NGS analysis of JAG1 and NOTCH2 genes ⁴ ⁶	ALGS-NGS	595.00	up to 8 weeks
Candersartan, Irbesartan, Losartan, Warfarin - activity of the CYP2C9	Identification of the CYP2C92 and 3 variants ⁴ ⁶	CYP2C9-1	157.00	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	857.00	up to 14 weeks
Cardiomyopathy (hypertrophic and dilated)	NGS coding sequence analysis of 20 genes, related to sudden cardiac death (SCD): ACTC1, COL3A1, DSC2, DSG2, DSP, FBN1, KCNH2, KCNQ1, LMNA, MYBPC3, MYH7, MYL2, MYL3, PKP2, PRKAG2, SCN5A, TMEM43, TNNI3, TNNT2, TPM1. ⁴ ⁶	KP_ACMG-NGS	619.00	up to 8 weeks
Carvedilol, Codeine, Metoprolol, Propranolol and Timolol - activity of the CYP2D6	Identification of the CYP2D6*4 variant ⁴ ⁶	CYP2D6-1	100.00	up to 4 weeks
	Copy number assessment of the CYP2D6 gene by MLPA ⁶	CYP2D6-MLPA	243.00	up to 6 weeks
Cerebral small vessel disease (CSVD)	NGS analysis of 6 genes related to CSVD: NOTCH3, COL4A1, COL4A2, GLA, HTRA1 and TREX1 ⁴ ⁶	CSVD-NGS	619.00	up to 8 weeks
Clopidogrel - analysis of the cytochrome CYP2C19 activity	Identification of the CYP2C192, 4 and *8 variants. ⁴ ⁶	CYP2C19-1	157.00	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	89.00	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	74.00	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	595.00	up to 8 weeks
Homocystinuria	NGS analysis of the CBS gene ⁴ ⁶	CBS-NGS	536.00	up to 8 weeks
Hypercholesterolemia	NGS analysis of LDLR, APOB, PCSK9 and LDLRAP1 genes. ⁴ ⁶	FHP-NGS	595.00	up to 8 weeks
Kabuki syndrome	NGS analysis of KMT2D and KDM6A genes. ⁴ ⁶	KABUKI-NGS	595.00	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	595.00	up to 8 weeks
Marfan Syndrome	NGS analysis of the FBN1 gene. ⁴ ⁶	FBN1-NGS	536.00	up to 8 weeks
Noonan Syndrome	NGS analysis of PTPN11, SOS1, SOS2, RAF1, KRAS, BRAF, MAP2K1,NRAS, HRAS, RIT1, NF1, PPP1CB, SPRED1, MAP2K2, CBL and c.4A>G in SHOC2 genes. ⁴ ⁶	NS-NGS	560.00	up 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 ⁶	TAAD-NGS	643.00	up to 8 weeks
Warfarin - identification of genotype related to VKOR enzymatic activity	Identification of the rs9934438:C>T (1173C>T) variant in the VKORC1 gene ⁴ ⁶	VKORC1-1	100.00	up to 4 weeks
CYSTIC FIBROSIS
Cystic Fibrosis (CF)	Targeted mutation analysis in the CFTR gene - carrier testing for a mutation of choice. ⁴ ⁶	CF-0	71.00	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	61.00	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	212.00	up to 4 weeks
	NGS analysis of the CFTR gene. ⁴ ⁶	CF-NGS	548.00	up to 8 weeks
NEUROLOGY
Amyotrophic lateral sclerosis (ALS)	Identification of the (GGGGCC) repeat expansion in the C9orf72 gene ⁴ ⁶	ALS-1	214.00	up to 3 weeks
Amyotrophic lateral sclerosis (ALS)	NGS analysis of 24 genes related to ALS ⁴ ⁶	ALS-NGS	643.00	up to 8 weeks
Aceruloplasminemia	NGS analysis of the CP gene ⁴ ⁶	CP-NGS	536.00	up to 8 weeks
Adrenoleucodystrophy	Sequence analysis of the coding region of the ABCD1 gene ⁴ ⁶	ALD-1	481.00	up to 8 weeks
Alzheimer Disease	Early onset disease. NGS analysis of PSEN1, PSEN2, APP, GRN, TREM2 and SORL1 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	155.00	up to 8 weeks
Angelman Syndrome	Sequence analysis of exons 7-16 of the UBE3A gene - supplementary to the ANGEL-1 test ¹ ⁴ ⁶	ANGEL-2	286.00	up to 8 weeks
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy - CADASIL	NGS analysis of the NOTCH3 gene. ⁴ ⁶	NOTCH3-NGS	536.00	up to 8 weeks
Cerebral small vessel disease (CSVD)	NGS analysis of 6 genes related to CSVD: NOTCH3, COL4A1, COL4A2, GLA, HTRA1 and TREX1 ⁴ ⁶	CSVD-NGS	619.00	up to 8 weeks
Congenital central hypoventilation syndrome, CCHS	Sequence analysis of the coding region of the PHOX2B gene ⁴ ⁶	PHOX2B-1	229.00	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	571.00	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	619.00	up to 8 weeks
	Epilepsy. NGS analysis of 12 related genes: SCN1A, GABRG2, GABRA1, PCDH19, STXBP1, SCN9A, GABRB3, SLC2A1, JRK, SCN2A, TSC1 and TSC2 ⁴ ⁶	EPI2-NGS	667.00	up to 8 weeks
Fragile X Syndrome	Analysis of premutation and dynamic mutation in the FMR1 gene - supplementary to FRAX-3 test ¹ ⁴ ⁶	FRAX-2	200.00	up to 10 weeks
	Identification of the normal number of (CGG) triplets in the FMR1 gene - a screening test ⁴ ⁶	FRAX-3	71.00	up to 3 weeks
	MS-MLPA analysis ⁴ ⁶	FRAX-4	200.00	up to 6 weeks
Frontotemporal dementia (FTD)	NGS analysis of 11 genes related to FTD ⁴ ⁶	FTD-NGS	643.00	up to 8 weeks
Hereditary neuropathy	NGS analysis of over 80 genes (custom panel) ⁴ ⁶	HNEUR-NGS	857.00	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	214.00	up to 6 weeks
Hereditary spastic paraplegia (HSP)	Screening NGS analysis of SPAST, ATL1, KIF5A, REEP1, CYP7B1, SPG7, SPG11 and ZFYVE26 genes ⁴ ⁶	SPG-NGS1	643.00	up to 8 weeks
	Screening NGS analysis of 33 genes (custom panel) ⁶	SPG-NGS3	714.00	up to 8 weeks
	Identification of large deletions i duplications in the SPAST and ATL1 genes using MLPA method ⁶	SPG4-MLPA	214.00	up to 6 weeks
Homocystinuria	NGS analysis of the CBS gene ⁴ ⁶	CBS-NGS	536.00	up to 8 weeks
Kabuki syndrome	NGS analysis of KMT2D and KDM6A genes. ⁴ ⁶	KABUKI-NGS	595.00	up to 8 weeks
Krabbe Disease	Identification of the IVS10del30kb deletion in the GALC gene ⁴ ⁶	GALC-1	86.00	up to 3 weeks
Krabbe Disease	NGS analysis of the GALC gene. ⁴ ⁶	GALC-NGS	536.00	up to 8 weeks
Metachromatic leukodystrophy	NGS analysis of genes ARSA and PSAP related to MLD ⁴ ⁶	MLD-NGS	595.00	up to 8 weeks
Mitochondrial Diseases	NGS analysis of the mitochondrial genome ⁶	mtDNA-NGS	238.00	up to 8 weeks
Muscular Dystrophy	Bethlem/Ullrich myopathy. NGS analysis of CCOL6A1, COL6A2 and COL6A3 genes. ⁴ ⁶	BETH-NGS	595.00	up 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 ⁶	CAPN3-1	116.00	up to 3 weeks
	Limb-Girdle Muscular Dystrophy type 2A (LGMD2A). NGS analysis of the CAPN3 gene. ⁴ ⁶	CAPN3-NGS	524.00	up 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 ⁶	DM1/DM2	238.00	up to 10 weeks
	Duchenne/Becker muscular dystrophy (DMD/BMD). Identification of large deletions/duplications in the DMD gene using MLPA method ¹ ⁶	DMD-MLPA	224.00	up to 6 weeks
	Duchenne/Becker muscular dystrophy (DMD/BMD). NGS analysis of DMD gene. ⁴ ⁶	DMD-NGS	536.00	up to 8 weeks
	Emery-Dreifuss muscular dystrophy (EDMD). NGS analysis of EMD, FHL1 and LMNA genes. ⁴ ⁶	EDMD-NGS	595.00	up to 8 weeks
	HyperCKemia. NGS analysis of CAV3, GAA and DAG1 genes. ⁴ ⁶	HCK-NGS	595.00	up to 8 weeks
	LAMA2-Related Muscular Dystrophy (LAMA2 MD). NGS analysis of the LAMA2 gene ⁴ ⁶	LAMA2-NGS	536.00	up 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 ⁶	LGMD-NGS	714.00	up 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 ⁶	LGMD1-NGS	595.00	up 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 ⁶	LGMD2-NGS	643.00	up to 8 weeks
	Walker-Warburg syndrome. NGS analysis 8 genes related to the disease:POMT1, POMT2, FKTN, FKRP, POMGNT1, ISPD, LARGE and DAG1 ⁴ ⁶	WWS-NGS	643.00	up to 8 weeks
Neurodegeneration with brain iron accumulation (NBIA)	NGS analysis of PPANK2, WDR45, PLA2G6, C19orf12, FTL and CP genes ⁴ ⁶	NBIA-NGS	619.00	up to 8 weeks
Neurofibromatosis	Neurofibromatosis type I, II and Legius syndrome. NGS analysis of NF1, NF2 and SPRED1 genes. ⁴ ⁶	NF-NGS	595.00	up to 8 weeks
	Neurofibromatosis type I (von Recklinghausen`s Disease). Identification of large deletions and insertions in the NF1 gene using MLPA method ⁶	NF1-MLPA	214.00	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	236.00	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	77.00	up to 3 weeks
Neuronal ceroid lipofuscinosis	CLN3 disease, classic juvenile. Identification of the most frequent CLN3 deletion ⁴ ⁶	CLN3-1	114.00	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	667.00	up to 8 weeks
Parkinson disease	Sequence analysis of the coding region of over 20 respective genes, including PRKN and PARK7	PARK-NGS	857.00	up to 14 weeks
Prader-Willi Syndrome	Analysis of methylation pattern and deletions in the 15q11-q13 region¹ ⁶	PWS-1	155.00	up to 8 weeks
Refsum Disease	Screening NGS analysis of PEX7 and PHYH genes. ⁴ ⁶	REFS-NGS	595.00	up to 8 weeks
Rett Syndrome	Sequence analysis of the coding region of the MECP2 gene ⁴ ⁶	RETT-1	143.00	up to 3 weeks
Rett Syndrome	Screening NGS analysis of the MECP2, CDKL5, FOXG1 and UBE3A genes. ⁴ ⁶	RETT-NGS	571.00	up to 8 weeks
Rubinstein-Taybi Syndrome	Screening NGS analysis of the CREBBP and EP300 gene ⁴ ⁶	RSTS-NGS	595.00	up to 8 weeks
Segawa syndrome	NGS analysis of i>GCH1 and TH1 genes. ⁴ ⁶	DRD-NGS	595.00	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	129.00	up to 4 weeks
Sotos syndrome	NGS analysis of analysis of the NSD1 gene. ⁴ ⁶	NSD1-NGS	524.00	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	71.00	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	155.00	up to 4 weeks
Spinal Muscular Atrophy	Sequence analysis of the coding region of the SMN1 gene ^1 ⁴ ⁶	SMA-3	202.00	up to 8 weeks
Tuberous sclerosis	Screening NGS analysis of TSC1 and TSC2 genes. ⁴ ⁶	TSC-NGS	595.00	up 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 ⁶	AMD-1	119.00	up to 3 weeks
Alagille syndrome	NGS analysis of JAG1 and NOTCH2 genes ⁴ ⁶	ALGS-NGS	595.00	up to 8 weeks
Alport syndrome	NGS analysis of COL4A3, COL4A4 and COL4A5 genes. ⁴ ⁶	AS-NGS	595.00	up to 8 weeks
Homocystinuria	NGS analysis of the CBS gene ⁴ ⁶	CBS-NGS	536.00	up to 8 weeks
Marfan Syndrome	NGS analysis of the FBN1 gene. ⁴ ⁶	FBN1-NGS	536.00	up to 8 weeks
Mitochondrial Diseases	NGS analysis of the mitochondrial genome ⁶	mtDNA-NGS	238.00	up to 8 weeks
Refsum Disease	Screening NGS analysis of PEX7 and PHYH genes. ⁴ ⁶	REFS-NGS	595.00	up to 8 weeks
Retinal dystrophy	Retinal and corneal dystrophy. NGS analysis of 300 genów dystrophy-related genes, including CNV analysis. ⁴ ⁶	OKU-NGS	714.00	up to 12 weeks
	NGS analysis of over 250 disease related genes ⁴ ⁶	RETIN-NGS	857.00	up to 14 weeks
	Type I Stargardt Disease. NGS sequence and CNV analysis of the ABCA4 gene. ⁴ ⁶	STARG-NGS	571.00	up to 8 weeks
ONCOLOGY
Bloom Syndrome	NGS analysis of the BLM gene.	BLM-NGS	536.00	up to 8 weeks
BRAF Gene Testing	Identification 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 ²	BRAF-1	114.00	up 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 ⁶	CHEK2-1	113.00	up to 4 weeks
Diffuse Gastric Cancer	NGS analysis of the CDH1 gene. ⁴ ⁶	CDH-NGS	530.00	up to 8 weeks
EGFR Gene Testing	Sequence analysis of selected EGFR gene regions (exons 20-23 (legacy No 18-21) for targeted therapy ²	EGFR-1	186.00	up to 3 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	232.00	up to 4 weeks
Hereditary breast/ovarian cancer - analysis the BRCA1 gene mutations in accordance with EMQN recommendations	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	104.00	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	125.00	up to 4 weeks
Inherited polyposes	Adenomatous polyposis (FAP, MAP, juvenile). Screening NGS analysis of APC, MUTYH, BMPR1A and SMAD4 genes ⁴ ⁶	POLYP-NGS	595.00	up to 8 weeks
KRAS gene analysis	Sequence analysis of exon 2-4 of the KRAS gene prior to targeted therapy in colorectal cancer (identification of codon 12 and 13 mutations) ²	KRAS-1	171.00	up to 4 weeks
Li-Fraumeni Syndrome	Sequence analysis of the TP53 gene ⁴ ⁶	TP53-NGS	524.00	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	595.00	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	232.00	up to 4 weeks
	Multiple endocrine neoplasia type 1. Sequence analysis of the coding region of the MEN1 gene ⁴ ⁶	MEN-2	429.00	up to 4 weeks
	Multiple endocrine neoplasia type 1 (MEN1) i type 2 (MEN2A and MEN2B). NGS analysis of MEN1 and RET genes. ⁴ ⁶	MEN-NGS	595.00	up to 8 weeks
Neurofibromatosis	Neurofibromatosis type I, II and Legius syndrome. NGS analysis of NF1, NF2 and SPRED1 genes. ⁴ ⁶	NF-NGS	595.00	up to 8 weeks
	Neurofibromatosis type I (von Recklinghausen`s Disease). Identification of large deletions and insertions in the NF1 gene using MLPA method ⁶	NF1-MLPA	214.00	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	236.00	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	86.00	up to 4 weeks
Peutz-Jeghers syndrome	Screening NGS analysis of the STK11 gene. ⁴ ⁶	STK11-NGS	476.00	up to 8 weeks
Retinoblastoma	Screening NGS analysis of the RB1 gene. ⁴ ⁶	RB1-NGS	595.00	up to 8 weeks
Screening NGS panel for hereditary cancers	For patients with familial cancer - testing for hereditary breast, ovarian and prostate cancer. NGS analysis of BRCA1 and BRCA2 genes. ⁴ ⁶	BRCA-NGS	500.00	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	VIP ONKO-4	690.00	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	VIP ONKO-SOMATIC	714.00	contact us
Screening panel for hereditary cancers	For 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 ⁶	VIP ONKO-1	357.00	up to 4 weeks
Screening panel for hereditary cancers	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 ⁶	VIP ONKO-2	357.00	up to 4 weeks
von Hippel-Lindau Syndrome (Familial Cerebelloretinal Angiomatosis)	Sequence analysis of the coding region of the VHL gene ⁴ ⁶	VHL-1	125.00	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	79.00	up to 3 weeks
Alagille syndrome	NGS analysis of JAG1 and NOTCH2 genes ⁴ ⁶	ALGS-NGS	595.00	up to 8 weeks
Alport syndrome	NGS analysis of COL4A3, COL4A4 and COL4A5 genes. ⁴ ⁶	AS-NGS	595.00	up to 8 weeks
Ankylosing spondylitis (Bechterews disease)	Determination of the HLA-B27 allele presence ¹ ⁴ ⁶	HLA-2	62.00	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	86.00	up to 3 weeks
Crouzon Syndrome	Sequence analysis of exons 8 and 10 of the FGFR2 gene ⁴ ⁶	CROUZ-1	129.00	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	595.00	up to 8 weeks
Homocystinuria	NGS analysis of the CBS gene ⁴ ⁶	CBS-NGS	536.00	up to 8 weeks
Hypochondroplasia	Identification of the common p.Asn540Lys mutation and other mutations in the exon 13 of the FGFR3 gene ⁴ ⁶	HYPOCH-1	79.00	up to 3 weeks
Klippel-Feil syndrome	NGS analysis of GDF6, GDF3 and MEOX1 genes. ⁴ ⁶	KFS-NGS	595.00	up to 8 weeks
Marfan Syndrome	NGS analysis of the FBN1 gene. ⁴ ⁶	FBN1-NGS	536.00	up to 8 weeks
McCune-Albright syndrome	Identification of the p.Arg201His, p.Arg201Cys, p.Gln227Leu and other variants in exons 7-9 of the GNAS gene in the affected tissue ⁴ ⁶	GNAS-1	91.00	up to 3 weeks
Muenke Syndrome	Identification of the p.Pro250Arg mutation in the exon 7 of the FGFR3 gene ⁴ ⁶	MUE-1	86.00	up to 3 weeks
Osteogenesis Imperfecta	NGS analysis of COL1A1 and COL1A2genes. ⁴ ⁶	OI-NGS	595.00	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	86.00	up to 3 weeks
Psoriasis	Identification of the HLA-Cw6 haplotype¹ ⁴ ⁶	HLA-1	67.00	up to 4 weeks
Rubinstein-Taybi Syndrome	Screening NGS analysis of the CREBBP and EP300 gene ⁴ ⁶	RSTS-NGS	595.00	up to 8 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	143.00	up to 3 weeks
GENOMIC RESEARCH
Aceruloplasminemia	NGS analysis of the CP gene ⁴ ⁶	CP-NGS	536.00	up to 8 weeks
Adrenoleucodystrophy	Sequence analysis of the coding region of the ABCD1 gene ⁴ ⁶	ALD-1	481.00	up to 8 weeks
Alagille syndrome	NGS analysis of JAG1 and NOTCH2 genes ⁴ ⁶	ALGS-NGS	595.00	up to 8 weeks
Alzheimer Disease	Early onset disease. NGS analysis of PSEN1, PSEN2, APP, GRN, TREM2 and SORL1 genes ⁴ ⁶	ALZ-NGS	667.00	up to 8 weeks
Cerebral small vessel disease (CSVD)	NGS analysis of 6 genes related to CSVD: NOTCH3, COL4A1, COL4A2, GLA, HTRA1 and TREX1 ⁴ ⁶	CSVD-NGS	619.00	up to 8 weeks
Clinical exome	Whole exome sequencing (WES) with subsequent analysis restricted to the clinical question ⁴ ⁶	EXOME-1	1000.00	up to 12 weeks
	Re-analysis of the whole exome sequencing data obtained using the EXOME-1 test (WES)	EXOME-2	310.00	contact us
	Diagnostic analysis of the clinical exome - 6700 clinically most significant genes with the scope of analysis depending on the clinical symptoms. ⁴ ⁶	MENDELIOME-1	810.00	up to 12 weeks
	Re-analysis of data obtained in frame of the MENDELIOME-t test.	MENDELIOME-2	286.00	up to 8 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	595.00	up to 8 weeks
Frontotemporal dementia (FTD)	NGS analysis of 11 genes related to FTD ⁴ ⁶	FTD-NGS	643.00	up to 8 weeks
Hereditary neuropathy	NGS analysis of over 80 genes (custom panel) ⁴ ⁶	HNEUR-NGS	857.00	up to 14 weeks
Homocystinuria	NGS analysis of the CBS gene ⁴ ⁶	CBS-NGS	536.00	up to 8 weeks
Inborn metabolic disorders	NGS analysis of over 150 genes (custom NGS panel) ⁴ ⁶	IMD-NGS	857.00	up to 14 weeks
Inborn metabolic disorders	NGS analysis of 27 genes related to hyperammonemia, including urea cycle disorders: ACADM, ACADS, ACADVL, ARG1, ASL, ASS1, BCKDHA, BCKDHB, CPT1A, CPT2, DBT, ETFA, ETFB, ETFDH, HADHA, HLCS, HMGCL, IVD, MCCC1, MCCC2, MMAA, MMAB, MUT, OTC, PCCA, PCCB, SLC22A5 ⁴ ⁶	UREA-NGS	619.00	up to 8 weeks
Klippel-Feil syndrome	NGS analysis of GDF6, GDF3 and MEOX1 genes. ⁴ ⁶	KFS-NGS	595.00	up to 8 weeks
Metachromatic leukodystrophy	NGS analysis of genes ARSA and PSAP related to MLD ⁴ ⁶	MLD-NGS	595.00	up to 8 weeks
Mitochondrial Diseases	NGS analysis of the mitochondrial genome ⁶	mtDNA-NGS	238.00	up to 8 weeks
Neurodegeneration with brain iron accumulation (NBIA)	NGS analysis of PPANK2, WDR45, PLA2G6, C19orf12, FTL and CP genes ⁴ ⁶	NBIA-NGS	619.00	up to 8 weeks
Neuromuscular diseases	NGS analysis of over 550 genes ⁴ ⁶	NMD-NGS	857.00	up to 14 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	77.00	up to 3 weeks
Neuronal ceroid lipofuscinosis	CLN3 disease, classic juvenile. Identification of the most frequent CLN3 deletion ⁴ ⁶	CLN3-1	114.00	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	571.00	up to 6 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	667.00	up to 8 weeks
Parkinson disease	Sequence analysis of the coding region of over 20 respective genes, including PRKN and PARK7	PARK-NGS	857.00	up to 14 weeks
Pompe disease	NGS analysis of the coding region of the GAA gene ⁴ ⁶	GAA-NGS	529.00	up to 8 weeks
Refsum Disease	Screening NGS analysis of PEX7 and PHYH genes. ⁴ ⁶	REFS-NGS	595.00	up to 8 weeks
Responsible parenthood	Carrier testing for future parents - genetic risk assessment (1700 genes included). ⁴ ⁶	STID-NGS	714.00	up to 12 weeks
Retinal dystrophy	Retinal and corneal dystrophy. NGS analysis of 300 genów dystrophy-related genes, including CNV analysis. ⁴ ⁶	OKU-NGS	714.00	up to 12 weeks
	NGS analysis of over 250 disease related genes ⁴ ⁶	RETIN-NGS	857.00	up to 14 weeks
	Type I Stargardt Disease. NGS sequence and CNV analysis of the ABCA4 gene. ⁴ ⁶	STARG-NGS	571.00	up to 8 weeks
Screening NGS panel for hereditary cancers	For patients with familial cancer - testing for hereditary breast, ovarian and prostate cancer. NGS analysis of BRCA1 and BRCA2 genes. ⁴ ⁶	BRCA-NGS	500.00	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	VIP ONKO-4	690.00	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	VIP ONKO-SOMATIC	714.00	contact us
Segawa syndrome	NGS analysis of i>GCH1 and TH1 genes. ⁴ ⁶	DRD-NGS	595.00	up to 8 weeks
Sotos syndrome	NGS analysis of analysis of the NSD1 gene. ⁴ ⁶	NSD1-NGS	524.00	up to 8 weeks
Surfactant deficiency	Screening NGS analysis of SFTPB, SFTPC and ABCA3 genes ⁴ ⁶	SURF-NGS	595.00	up to 8 weeks
OTHER
Additional services	Any marker or mutation from the GENOMED offer, except MLPA ⁴ ⁶	INNE-1	83.00	contact us
Additional services	Biobanking (up to 5 years). ⁴ ⁶	INNE-5	24.00	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	71.00	up to 3 weeks
Clinical exome	Whole exome sequencing (WES) with subsequent analysis restricted to the clinical question ⁴ ⁶	EXOME-1	1000.00	up to 12 weeks
	Re-analysis of the whole exome sequencing data obtained using the EXOME-1 test (WES)	EXOME-2	310.00	contact us
	Diagnostic analysis of the clinical exome - 6700 clinically most significant genes with the scope of analysis depending on the clinical symptoms. ⁴ ⁶	MENDELIOME-1	810.00	up to 12 weeks
	Re-analysis of data obtained in frame of the MENDELIOME-t test.	MENDELIOME-2	286.00	up to 8 weeks
Lymphocyte Karyotype	Analysis of quantitative and qualitative chromosome aberrations using classical cytogenetic methods ^{1 3}	KAR-1	117.00	up to 4 weeks
Lymphocyte Karyotype	Analysis of quantitative and qualitative chromosome aberrations using classical cytogenetic methods for both parents ^{1 3}	KAR-2	229.00	up to 4 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	167.00	up to 5 weeks
Microdeletion Syndromes	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 ^{1^⁶}	MICDEL-2	167.00	up to 5 weeks
Mitochondrial Diseases	NGS analysis of the mitochondrial genome ⁶	mtDNA-NGS	238.00	up to 8 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	464.00	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	571.00	up to 6 weeks
Responsible parenthood	Carrier testing for future parents - genetic risk assessment (1700 genes included). ⁴ ⁶	STID-NGS	714.00	up to 12 weeks
Sex Determination	Analysis of genetic markers specific to the AMGX, AMGY and SRY genes ⁴ ⁶	SRY-1	57.00	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	71.00	up to 3 weeks
Surfactant deficiency	Screening NGS analysis of SFTPB, SFTPC and ABCA3 genes ⁴ ⁶	SURF-NGS	595.00	up 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 (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.

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