DNA labs India - List of all Metabolic Diseases Tests Cost

Genetic DNA test List of all Metabolic Diseases Tests sample collection and testing

DNA labs India is Ranked as India’s No1 Genetic DNA Testing Laboratory. With 3000 sample collection centers, 7 Regional Offices in Delhi Mumbai Kolkata chennai bangalore Hyderabad Ahmedabad and pune & tie-up with 500 hospitals across India. We perform more than 5000 tests a day.India’s most trusted genetic lab by doctors. Below are List of all Metabolic Diseases Tests. Feel Free to contact us if you facing hard time in identifing the test that best fits your need. Our team of experts will help you

Test Name

Test Cost

Test Details

17-hydroxylation activity deficiency (CYP17A1)

Cost: 45000.00  Test Offer

2-aminoadipic 2-oxoadipic aciduria (DHTKD1)

Cost: 45000.00  Test Offer

2-methylbutyrylglycinuria (ACADSB)

Cost: 45000.00  Test Offer

3-beta-hydroxysteroid dehydrogenase deficiency type 2 (HSD3B2)

Cost: 45000.00  Test Offer

3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCL)

Cost: 45000.00  Test Offer

3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency (HMGCS2)

Cost: 45000.00  Test Offer

3-hydroxyisobutryl-CoA hydrolase deficiency (HIBCH)

Cost: 45000.00  Test Offer

3-methylglutaconic aciduria type 1 (AUH)

Cost: 45000.00  Test Offer

3-methylglutaconic aciduria type 3 (OPA3)

Cost: 45000.00  Test Offer

3-methylglutaconic aciduria type 5 (DNAJC19)

Cost: 45000.00  Test Offer

3-methylglutaconic aciduria with deafness encephalopathy and Leigh-like syndrome (SERAC1)

Cost: 45000.00  Test Offer

5-oxoprolinase deficiency (OPLAH)

Cost: 45000.00  Test Offer

Abetalipoproteinemia (MTTP)

Cost: 45000.00  Test Offer

Acetycholinesterase deficiency (ACHE)

Cost: 45000.00  Test Offer

Acute myeloid leukemia somatic DNMT3A related (DNMT3A)

Cost: 45000.00  Test Offer

Acyl-CoA medium-chain dehydrogenase deficiency (ACADM)

Cost: 45000.00  Test Offer

Acyl-CoA multiple dehydrogenase deficiency (ETFA)

Cost: 45000.00  Test Offer

Acyl-CoA multiple dehydrogenase deficiency (ETFB)

Cost: 45000.00  Test Offer

Acyl-CoA multiple dehydrogenase deficiency (ETFDH)

Cost: 45000.00  Test Offer

Acyl-CoA short-chain dehydrogenase deficiency (ACADS)

Cost: 45000.00  Test Offer

Acyl-CoA very long-chain dehydrogenase deficiency (ACADVL)

Cost: 45000.00  Test Offer

Adenine phosphoribosyltransferase deficiency (APRT)

Cost: 45000.00  Test Offer

Adenocarcinoma of lung somatic (BRAF)

Cost: 45000.00  Test Offer

Adenocarcinoma of lung somatic (ERBB2)

Cost: 45000.00  Test Offer

Adenoma periampullary somatic (APC)

Cost: 45000.00  Test Offer

Adenylosuccinase deficiency (ADSL)

Cost: 45000.00  Test Offer

Adrenal adenoma somatic (MEN1)

Cost: 45000.00  Test Offer

Adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2)

Cost: 45000.00  Test Offer

Adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (POR)

Cost: 45000.00  Test Offer

Adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency (CYP11B1)

Cost: 45000.00  Test Offer

Adrenal hypoplasia (NR0B1)

Cost: 45000.00  Test Offer

Alkaptonuria (HGD)

Cost: 45000.00  Test Offer

Alpha-2-macroglobulin deficiency (A2M)

Cost: 45000.00  Test Offer

Alpha-ketoglutarate dehydrogenase deficiency (OGDH)

Cost: 45000.00  Test Offer

Alpha-methylacyl CoA racemase deficiency (AMACR)

Cost: 45000.00  Test Offer

Aminoacylase deficiency (ACY1)

Cost: 45000.00  Test Offer

AMP deaminase deficiency erythrocytic (AMPD3)

Cost: 45000.00  Test Offer

Amyloidosis familial visceral (APOA1)

Cost: 45000.00  Test Offer

Andersen disease (GBE1)

Cost: 45000.00  Test Offer

Anemia dyserythropoietic type 1A (CDAN1)

Cost: 45000.00  Test Offer

Anemia dyserythropoietic type 2 (SEC23B)

Cost: 45000.00  Test Offer

Angiofibroma somatic (MEN1)

Cost: 45000.00  Test Offer

Antitrypsin-alpha-1 deficiency (SERPINA1)

Cost: 45000.00  Test Offer

Aplastic anemia (IFNG)

Cost: 45000.00  Test Offer

Aplastic anemia (PRF1)

Cost: 45000.00  Test Offer

Aplastic anemia (TERC)

Cost: 45000.00  Test Offer

Aplastic anemia (TERT)

Cost: 45000.00  Test Offer

Aplastic anemia SBDS related (SBDS)

Cost: 45000.00  Test Offer

Apolipoprotein C-II deficiency (APOC2)

Cost: 45000.00  Test Offer

Apparent mineralocorticoid excess (HSD11B2)

Cost: 45000.00  Test Offer

Arginase deficiency (ARG1)

Cost: 45000.00  Test Offer

Arginine-glycine amidinotransferase deficiency (GATM)

Cost: 45000.00  Test Offer

Argininosuccinic aciduria (ASL)

Cost: 45000.00  Test Offer

Aromatic L-amino acid decarboxylase deficiency (DDC)

Cost: 45000.00  Test Offer

Asparaginesynthetase deficiency (ASNS)

Cost: 45000.00  Test Offer

Aspartylglucosaminuria (AGA)

Cost: 45000.00  Test Offer

Basal cell carcinoma type 7 susceptibility to somatic (TP53)

Cost: 45000.00  Test Offer

Basal cell nevus syndrome (PTCH1)

Cost: 45000.00  Test Offer

Basal cell nevus syndrome (SUFU)

Cost: 45000.00  Test Offer

Basal cell nevus syndrome due to germline PTCH2 mutation (PTCH2)

Cost: 45000.00  Test Offer

Beckwith-Wiedemann syndrome (CDKN1C)

Cost: 45000.00  Test Offer

Beckwith-Wiedemann syndrome (chr. 11p15)

Cost: 45000.00  Test Offer

Beckwith-Wiedemann syndrome (H19)

Cost: 45000.00  Test Offer

Beckwith-Wiedemann syndrome (KCNQ1OT1)

Cost: 45000.00  Test Offer

Beckwith-Wiedemann syndrome (NSD1)

Cost: 45000.00  Test Offer

Beta-Galactosamide alpha-26-Sialyltransferase 2 deficiency (ST6GAL2)

Cost: 45000.00  Test Offer

Beta-ureidopropionase deficiency (UPB1)

Cost: 45000.00  Test Offer

Bile acid synthesis defect type 2 congenital (AKR1D1)

Cost: 45000.00  Test Offer

Bile acid synthesis defect type 3 congenital (CYP7B1)

Cost: 45000.00  Test Offer

Biotinidase deficiency (BTD)

Cost: 45000.00  Test Offer

Bladder cancer HRAS related somatic (HRAS)

Cost: 45000.00  Test Offer

Bladder cancer somatic (FGFR3)

Cost: 45000.00  Test Offer

Bladder cancer somatic (KRAS)

Cost: 45000.00  Test Offer

Bladder cancer TSC1-related somatic (TSC1)

Cost: 45000.00  Test Offer

Bloom syndrome (BLM)

Cost: 45000.00  Test Offer

BRAF somatic Hotspot: c.1799T>A p.V600E (BRAF)

Cost: 45000.00  Test Offer

BRAF selective sequencing of exon 15 (BRAF)

Cost: 45000.00  Test Offer

Branched-chain aminotransferase 1 deficiency (BCAT1)

Cost: 45000.00  Test Offer

Branched-chain aminotransferase 2 deficiency (BCAT2)

Cost: 45000.00  Test Offer

Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDK)

Cost: 45000.00  Test Offer

Breast cancer RINT1 related (RINT1)

Cost: 45000.00  Test Offer

Breast cancer somatic (KRAS)

Cost: 45000.00  Test Offer

Breast cancer susceptibility to (BARD1)

Cost: 45000.00  Test Offer

Breast cancer susceptibility to (PALB2)

Cost: 45000.00  Test Offer

Breast cancer susceptibility to (XRCC3)

Cost: 45000.00  Test Offer

Breast Ovarian Cancer (BRCA1)

Cost: 45000.00  Test Offer

Breast-ovarian cancer (BRCA2)

Cost: 45000.00  Test Offer

Breast-ovarian cancer (RAD51C)

Cost: 45000.00  Test Offer

Breast-ovarian cancer familial susceptibility to type 4 (RAD51D)

Cost: 45000.00  Test Offer

Bronchiectasis with or without elevated sweat chloride type 2 (SCNN1A)

Cost: 45000.00  Test Offer

Butyrylcholinesterase deficiency (BCHE)

Cost: 45000.00  Test Offer

CALR selective sequencing of exon 9 (CALR)

Cost: 45000.00  Test Offer

Carbamoylphosphate synthetase I deficiency (CPS1)

Cost: 45000.00  Test Offer

Carcinoid tumor of lung somatic (MEN1)

Cost: 45000.00  Test Offer

Carney complex type 1 (PRKAR1A)

Cost: 45000.00  Test Offer

Carnitine deficiency (SLC22A5)

Cost: 45000.00  Test Offer

Carnitine palmitoyltransferase 1A deficiency (CPT1A)

Cost: 45000.00  Test Offer

Carnitine palmitoyltransferase 1B deficiency (CPT1B)

Cost: 45000.00  Test Offer

Carnitine palmitoyltransferase 2 deficiency (CPT2)

Cost: 45000.00  Test Offer

Carnitine-acylcarnitine translocase deficiency (SLC25A20)

Cost: 45000.00  Test Offer

Catechol-o-methyltransferase deficiency (COMT)

Cost: 45000.00  Test Offer

Cell cycle disorder CDC20 related (CDC20)

Cost: 45000.00  Test Offer

Ceroid lipofuscinosis neuronal type 1 (PPT1)

Cost: 45000.00  Test Offer

Ceroid lipofuscinosis neuronal type 10 (CTSD)

Cost: 45000.00  Test Offer

Ceroid lipofuscinosis neuronal type 11 (GRN)

Cost: 45000.00  Test Offer

Ceroid lipofuscinosis neuronal type 2 (TPP1)

Cost: 45000.00  Test Offer

Ceroid lipofuscinosis neuronal type 3 (CLN3)

Cost: 45000.00  Test Offer

Ceroid lipofuscinosis neuronal type 4 (DNAJC5)

Cost: 45000.00  Test Offer

Ceroid lipofuscinosis neuronal type 5 (CLN5)

Cost: 45000.00  Test Offer

Ceroid lipofuscinosis neuronal type 6 (CLN6)

Cost: 45000.00  Test Offer

Ceroid lipofuscinosis neuronal type 7 (MFSD8)

Cost: 45000.00  Test Offer

Ceroid lipofuscinosis neuronal type 8 (CLN8)

Cost: 45000.00  Test Offer

Cervical cancer somatic (FGFR3)

Cost: 45000.00  Test Offer

Chanarin-Dorfman syndrome (ABHD5)

Cost: 45000.00  Test Offer

Chloramphenicol resistance MT-RNR2 related (NGS Sequencing: MT-RNR2)

Cost: 45000.00  Test Offer

Cholestasis (intrahepatic) of pregnancy (ABCB4)

Cost: 45000.00  Test Offer

Cholestasis progressive intrahepatic type 1 (ATP8B1)

Cost: 45000.00  Test Offer

Cholestasis progressive intrahepatic type 2 (ABCB11)

Cost: 45000.00  Test Offer

Cholestasis progressive intrahepatic type 3 (ABCB4)

Cost: 45000.00  Test Offer

Cholesteryl ester storage disease (LIPA)

Cost: 45000.00  Test Offer

Citrin deficiency (SLC25A13)

Cost: 45000.00  Test Offer

Citrullinemia (ASS1)

Cost: 45000.00  Test Offer

CoA-2 4-dienoyl reductase 1 deficiency (DECR1)

Cost: 45000.00  Test Offer

CoA-3-hydroxyacyl dehydrogenase deficiency (HADH)

Cost: 45000.00  Test Offer

CoA-3-methylcrontonyl carboxylase 1 deficiency (MCCC1)

Cost: 45000.00  Test Offer

CoA-3-methylcrontonyl carboxylase 2 deficiency (MCCC2)

Cost: 45000.00  Test Offer

Colchicine resistance (ABCB1)

Cost: 45000.00  Test Offer

Colon cancer PPARG related somatic (PPARG)

Cost: 45000.00  Test Offer

Colorectal cancer hereditary (NRAS)

Cost: 45000.00  Test Offer

Colorectal cancer hereditary nonpolyposis type 1 (MSH2)

Cost: 45000.00  Test Offer

Colorectal cancer hereditary nonpolyposis type 2 (MLH1)

Cost: 45000.00  Test Offer

Colorectal cancer hereditary nonpolyposis type 4 (PMS2)

Cost: 45000.00  Test Offer

Colorectal cancer hereditary nonpolyposis type 5 (MSH6)

Cost: 45000.00  Test Offer

Colorectal cancer hereditary nonpolyposis type 6 (TGFBR2)

Cost: 45000.00  Test Offer

Colorectal cancer hereditary nonpolyposis type 7 (MLH3)

Cost: 45000.00  Test Offer

Colorectal cancer hereditary nonpolyposis type 8 (EPCAM)

Cost: 45000.00  Test Offer

Colorectal cancer hereditary susceptibility to (CCND1)

Cost: 45000.00  Test Offer

Colorectal Cancer resistance to cetuximab EGFR related somatic (EGFR)

Cost: 45000.00  Test Offer

Colorectal cancer somatic (APC)

Cost: 45000.00  Test Offer

Colorectal cancer somatic (BRAF)

Cost: 45000.00  Test Offer

Colorectal cancer somatic (CTNNB1)

Cost: 45000.00  Test Offer

Colorectal cancer somatic (DCC)

Cost: 45000.00  Test Offer

Colorectal cancer somatic (EP300)

Cost: 45000.00  Test Offer

Colorectal cancer somatic (FGFR3)

Cost: 45000.00  Test Offer

Colorectal cancer somatic (FLCN)

Cost: 45000.00  Test Offer

Colorectal cancer somatic (NRAS)

Cost: 45000.00  Test Offer

Combined D-2- and L-2-hydroxyglutaric aciduria (SLC25A1)

Cost: 45000.00  Test Offer

Combined malonic and methylmalonic aciduria (ACSF3)

Cost: 45000.00  Test Offer

Combined oxidative phosphorylation deficiency type 1 (GFM1)

Cost: 45000.00  Test Offer

Combined oxidative phosphorylation deficiency type 10 (MTO1)

Cost: 45000.00  Test Offer

Combined oxidative phosphorylation deficiency type 11 (RMND1)

Cost: 45000.00  Test Offer

Combined oxidative phosphorylation deficiency type 12 (EARS2)

Cost: 45000.00  Test Offer

Combined oxidative phosphorylation deficiency type 13 (PNPT1)

Cost: 45000.00  Test Offer

Combined oxidative phosphorylation deficiency type 14 (FARS2)

Cost: 45000.00  Test Offer

Combined oxidative phosphorylation deficiency type 15 (MTFMT)

Cost: 45000.00  Test Offer

Combined oxidative phosphorylation deficiency type 16 (MRPL44)

Cost: 45000.00  Test Offer

Combined oxidative phosphorylation deficiency type 17 (ELAC2)

Cost: 45000.00  Test Offer

Combined oxidative phosphorylation deficiency type 18 (SFXN4)

Cost: 45000.00  Test Offer

Combined oxidative phosphorylation deficiency type 19 (LYRM4)

Cost: 45000.00  Test Offer

Combined oxidative phosphorylation deficiency type 2 (MRPS16)

Cost: 45000.00  Test Offer

Combined oxidative phosphorylation deficiency type 20 (VARS2)

Cost: 45000.00  Test Offer

Combined oxidative phosphorylation deficiency type 21 (TARS2)

Cost: 45000.00  Test Offer

Combined oxidative phosphorylation deficiency type 22 (ATP5A1)

Cost: 45000.00  Test Offer

Combined oxidative phosphorylation deficiency type 23 (GTPBP3)

Cost: 45000.00  Test Offer

Combined oxidative phosphorylation deficiency type 24 (NARS2)

Cost: 45000.00  Test Offer

Combined oxidative phosphorylation deficiency type 25 (MARS2)

Cost: 45000.00  Test Offer

Combined oxidative phosphorylation deficiency type 26 (TRMT5)

Cost: 45000.00  Test Offer

Combined oxidative phosphorylation deficiency type 3 (TSFM)

Cost: 45000.00  Test Offer

Combined oxidative phosphorylation deficiency type 4 (TUFM)

Cost: 45000.00  Test Offer

Combined oxidative phosphorylation deficiency type 5 (MRPS22)

Cost: 45000.00  Test Offer

Combined oxidative phosphorylation deficiency type 6 (AIFM1)

Cost: 45000.00  Test Offer

Combined oxidative phosphorylation deficiency type 7 (C12ORF65)

Cost: 45000.00  Test Offer

Combined oxidative phosphorylation deficiency type 8 (AARS2)

Cost: 45000.00  Test Offer

Combined oxidative phosphorylation deficiency type 9 (MRPL3)

Cost: 45000.00  Test Offer

Congenital disorder of glycosylation type Ip (ALG11)

Cost: 45000.00  Test Offer

Congenital disorder of glycosylation type Iq (SRD5A3)

Cost: 45000.00  Test Offer

Coproporphyria (CPOX)

Cost: 45000.00  Test Offer

Cori Forbes disease (AGL)

Cost: 45000.00  Test Offer

Coumarin/Warfarin resistance due to CYP2C9 variants (CYP2C9)

Cost: 45000.00  Test Offer

Cowden syndrome type 1 (PTEN)

Cost: 45000.00  Test Offer

Cowden syndrome type 5 (PIK3CA)

Cost: 45000.00  Test Offer

Cowden syndrome type 6 (AKT1)

Cost: 45000.00  Test Offer

Creatine deficiency syndrome X-linked (SLC6A8)

Cost: 45000.00  Test Offer

Cylindromatosis familial (CYLD)

Cost: 45000.00  Test Offer

CYP2C19 related poor drug metabolism (CYP2C19)

Cost: 45000.00  Test Offer

CYP2D6 related poor drug metabolism (CYP2D6)

Cost: 45000.00  Test Offer

Cystathioninuria (CTH)

Cost: 45000.00  Test Offer

Cystic fibrosis (CFTR)

Cost: 45000.00  Test Offer

Cystic fibrosis SLC6A14 related (SLC6A14)

Cost: 45000.00  Test Offer

Cystinosis nephropathic (CTNS)

Cost: 45000.00  Test Offer

Cytochrome P450 deficiency (CYP1A2)

Cost: 45000.00  Test Offer

D-2-hydroxyglutaric aciduria type 1 (D2HGDH)

Cost: 45000.00  Test Offer

D-2-hydroxyglutaric aciduria type 2 (IDH2)

Cost: 45000.00  Test Offer

D-glyceric aciduria (GLYCTK)

Cost: 45000.00  Test Offer

Diabetes insipidus nephrogenic X-linked (AVPR2)

Cost: 45000.00  Test Offer

Diabetes insipidus neurohypophyseal (AVP)

Cost: 45000.00  Test Offer

Diabetes mellitus type 1 (INS)

Cost: 45000.00  Test Offer

Diabetes mellitus insulin-resistant with acanthosis nigricans (INSR)

Cost: 45000.00  Test Offer

Diabetes mellitus neonatal (GLIS3)

Cost: 45000.00  Test Offer

Diabetes mellitus noninsulin-dependent (ABCC8)

Cost: 45000.00  Test Offer

Diabetes mellitus noninsulin-dependent (AKT2)

Cost: 45000.00  Test Offer

Diabetes mellitus noninsulin-dependent (KCNJ11)

Cost: 45000.00  Test Offer

Diabetes mellitus permanent neonatal (ABCC8)

Cost: 45000.00  Test Offer

Diabetes mellitus permanent neonatal (NEUROG3)

Cost: 45000.00  Test Offer

Diabetes mellitus transient neonatal type 2 (ABCC8)

Cost: 45000.00  Test Offer

Diabetes IGF2 related (IGF2)

Cost: 45000.00  Test Offer

Diarrhea type 1 secretory chloride congenital (SLC26A3)

Cost: 45000.00  Test Offer

Diarrhea type 4 malabsorptive congenital (NEUROG3)

Cost: 45000.00  Test Offer

Dihydropyrimidine dehydrogenase deficiency (DPYD)

Cost: 45000.00  Test Offer

Dimethylglycine dehydrogenase deficiency (DMGDH)

Cost: 45000.00  Test Offer

Efavirenz poor metabolism of (CYP2B6)

Cost: 45000.00  Test Offer

EGFR somatic Hotspot: c.2573T>G p.L858R (EGFR)

Cost: 45000.00  Test Offer

EGFR selective sequencing of exons 18-21 (EGFR)

Cost: 45000.00  Test Offer

Endometrial carcinoma somatic (CDH1)

Cost: 45000.00  Test Offer

Endometrioid carcinoma ARID1A related somatic (ARID1A)

Cost: 45000.00  Test Offer

Enterokinase deficiency (TMPRSS15)

Cost: 45000.00  Test Offer

Epidermal nevus somatic (NRAS)

Cost: 45000.00  Test Offer

Erythrocyte lactate transporter defect (SLC16A1)

Cost: 45000.00  Test Offer

Esophageal cancer somatic (TGFBR2)

Cost: 45000.00  Test Offer

Esophageal carcinoma somatic (DCC)

Cost: 45000.00  Test Offer

Fabry disease (GLA)

Cost: 45000.00  Test Offer

Factor II deficiency (F2)

Cost: 45000.00  Test Offer

Factor V deficiency (F5)

Cost: 45000.00  Test Offer

Factor XIIIB deficiency (F13B)

Cost: 45000.00  Test Offer

Familial adenomatous polyposis coli (APC)

Cost: 45000.00  Test Offer

Familial adenomatous polyposis coli (MUTYH)

Cost: 45000.00  Test Offer

Familial adenomatous polyposis type 3 (NTHL1)

Cost: 45000.00  Test Offer

Fanconi anemia type A (FANCA)

Cost: 45000.00  Test Offer

Fanconi anemia type B (FANCB)

Cost: 45000.00  Test Offer

Fanconi anemia type C (FANCC)

Cost: 45000.00  Test Offer

Fanconi anemia type D1 (BRCA2)

Cost: 45000.00  Test Offer

Fanconi anemia type D2 (FANCD2)

Cost: 45000.00  Test Offer

Fanconi anemia type E (FANCE)

Cost: 45000.00  Test Offer

Fanconi anemia type F (FANCF)

Cost: 45000.00  Test Offer

Fanconi anemia type G (FANCG)

Cost: 45000.00  Test Offer

Fanconi anemia type I (FANCI)

Cost: 45000.00  Test Offer

Fanconi anemia type J (BRIP1)

Cost: 45000.00  Test Offer

Fanconi anemia type L (FANCL)

Cost: 45000.00  Test Offer

Fanconi anemia type M (FANCM)

Cost: 45000.00  Test Offer

Fanconi anemia type N (PALB2)

Cost: 45000.00  Test Offer

Fanconi anemia type P (SLX4)

Cost: 45000.00  Test Offer

Fanconi anemia XRCCR2 related (XRCC2)

Cost: 45000.00  Test Offer

Fanconi-Bickel syndrome (SLC2A2)

Cost: 45000.00  Test Offer

Farber disease (ASAH1)

Cost: 45000.00  Test Offer

Fish eye disease (LCAT)

Cost: 45000.00  Test Offer

Folate malabsorption hereditary (SLC46A1)

Cost: 45000.00  Test Offer

Fructose intolerance (ALDOB)

Cost: 45000.00  Test Offer

Fructose uptake deficiency SLC2A5 related (SLC2A5)

Cost: 45000.00  Test Offer

Fructose-16-bisphosphatase deficiency (FBP1)

Cost: 45000.00  Test Offer

Fructosuria essential (KHK)

Cost: 45000.00  Test Offer

Fucosidosis (FUCA1)

Cost: 45000.00  Test Offer

Fumarase deficiency (FH)

Cost: 45000.00  Test Offer

GABA-transaminase deficiency (ABAT)

Cost: 45000.00  Test Offer

Galactokinase deficiency (GALK1)

Cost: 45000.00  Test Offer

Galactose epimerase deficiency (GALE)

Cost: 45000.00  Test Offer

Galactosemia (GALT)

Cost: 45000.00  Test Offer

Galactosialidosis (CTSA)

Cost: 45000.00  Test Offer

Gallbladder disease type 1 (ABCB4)

Cost: 45000.00  Test Offer

Gastric cancer BLM related somatic (BLM)

Cost: 45000.00  Test Offer

Gastric cancer hereditary diffuse (CDH1)

Cost: 45000.00  Test Offer

Gastric cancer somatic (APC)

Cost: 45000.00  Test Offer

Gastric cancer somatic (ERBB2)

Cost: 45000.00  Test Offer

Gastric cancer somatic (FGFR2)

Cost: 45000.00  Test Offer

Gastric cancer somatic (KLF6)

Cost: 45000.00  Test Offer

Gastric cancer somatic (KRAS)

Cost: 45000.00  Test Offer

Gastric cancer somatic (MUTYH)

Cost: 45000.00  Test Offer

Gastrointestinal stromal tumor familial (KIT)

Cost: 45000.00  Test Offer

Gastrointestinal stromal tumor somatic (PDGFRA)

Cost: 45000.00  Test Offer

Gaucher disease (GBA)

Cost: 45000.00  Test Offer

Germ cell tumors somatic (KIT)

Cost: 45000.00  Test Offer

Glioblastoma somatic (ERBB2)

Cost: 45000.00  Test Offer

Glioma susceptibility 1 susceptibility to somatic (TP53)

Cost: 45000.00  Test Offer

Glioma susceptibility to somatic (IDH1)

Cost: 45000.00  Test Offer

Glucocorticoid deficiency type 1 (MC2R)

Cost: 45000.00  Test Offer

Glucocorticoid deficiency type 2 (MRAP)

Cost: 45000.00  Test Offer

Glucose/Galactose malabsorption (SLC5A1)

Cost: 45000.00  Test Offer

Glucose-6-phosphate dehydrogenase deficiency with nonspherocytic hemolytic anemia (G6PD)

Cost: 45000.00  Test Offer

Glutamate formiminotransferase deficiency (FTCD)

Cost: 45000.00  Test Offer

Glutamine deficiency congenital (GLUL)

Cost: 45000.00  Test Offer

Glutaric acidemia type 1 (GCDH)

Cost: 45000.00  Test Offer

Glutaric aciduria type 3 (SUGCT)

Cost: 45000.00  Test Offer

Glutathione S-transferase theta-1 defficiency (GSTT1)

Cost: 45000.00  Test Offer

Glutathione synthetase deficiency (GSS)

Cost: 45000.00  Test Offer

Glycerol kinase deficiency (GK)

Cost: 45000.00  Test Offer

Glycogen storage disease of heart (lethal) (PRKAG2)

Cost: 45000.00  Test Offer

Glycogen storage disease type 0 (GYS2)

Cost: 45000.00  Test Offer

Glycogen storage disease type 0 muscle (GYS1)

Cost: 45000.00  Test Offer

Glycogen storage disease type 10 (PGAM2)

Cost: 45000.00  Test Offer

Glycogen storage disease type 11 (LDHA)

Cost: 45000.00  Test Offer

Glycogen storage disease type 12 (ALDOA)

Cost: 45000.00  Test Offer

Glycogen storage disease type 13 (ENO3)

Cost: 45000.00  Test Offer

Glycogen storage disease type 14 (PGM1)

Cost: 45000.00  Test Offer

Glycogen storage disease type 15 (GYG1)

Cost: 45000.00  Test Offer

Glycogen storage disease type 1A (G6PC)

Cost: 45000.00  Test Offer

Glycogen storage disease type 1B (SLC37A4)

Cost: 45000.00  Test Offer

Glycogen storage disease type 1C (SLC37A4)

Cost: 45000.00  Test Offer

Glycogen storage disease type 2 (GAA)

Cost: 45000.00  Test Offer

Glycogen storage disease type 3 (AGL)

Cost: 45000.00  Test Offer

Glycogen storage disease type 4 (GBE1)

Cost: 45000.00  Test Offer

Glycogen storage disease type 5 (PYGM)

Cost: 45000.00  Test Offer

Glycogen storage disease type 6B (PYGL)

Cost: 45000.00  Test Offer

Glycogen storage disease type 7 (PFKM)

Cost: 45000.00  Test Offer

Glycogen storage disease type 9A (PHKA2)

Cost: 45000.00  Test Offer

Glycogen storage disease type 9B (PHKB)

Cost: 45000.00  Test Offer

Glycogen storage disease type 9C (PHKG2)

Cost: 45000.00  Test Offer

Glycosylation disorder type 1A (PMM2)

Cost: 45000.00  Test Offer

Glycosylation disorder type 1B (MPI)

Cost: 45000.00  Test Offer

Glycosylation disorder type 1C (ALG6)

Cost: 45000.00  Test Offer

Glycosylation disorder type 1D (ALG3)

Cost: 45000.00  Test Offer

Glycosylation disorder type 1E (DPM1)

Cost: 45000.00  Test Offer

Glycosylation disorder type 1F (MPDU1)

Cost: 45000.00  Test Offer

Glycosylation disorder type 1G (ALG12)

Cost: 45000.00  Test Offer

Glycosylation disorder type 1H (ALG8)

Cost: 45000.00  Test Offer

Glycosylation disorder type 1I (ALG2)

Cost: 45000.00  Test Offer

Glycosylation disorder type 1J (DPAGT1)

Cost: 45000.00  Test Offer

Glycosylation disorder type 1K (ALG1)

Cost: 45000.00  Test Offer

Glycosylation disorder type 1L (ALG9)

Cost: 45000.00  Test Offer

Glycosylation disorder type 1M (DOLK)

Cost: 45000.00  Test Offer

Glycosylation disorder type 1N (RFT1)

Cost: 45000.00  Test Offer

Glycosylation disorder type 1O (DPM3)

Cost: 45000.00  Test Offer

Glycosylation disorder type 1S (ALG13)

Cost: 45000.00  Test Offer

Glycosylation disorder type 1U (DPM2)

Cost: 45000.00  Test Offer

Glycosylation disorder type 2A (MGAT2)

Cost: 45000.00  Test Offer

Glycosylation disorder type 2B (MOGS)

Cost: 45000.00  Test Offer

Glycosylation disorder type 2C (SLC35C1)

Cost: 45000.00  Test Offer

Glycosylation disorder type 2D (B4GALT1)

Cost: 45000.00  Test Offer

Glycosylation disorder type 2E (COG7)

Cost: 45000.00  Test Offer

Glycosylation disorder type 2F (SLC35A1)

Cost: 45000.00  Test Offer

Glycosylation disorder type 2G (COG1)

Cost: 45000.00  Test Offer

Glycosylation disorder type 2H (COG8)

Cost: 45000.00  Test Offer

Glycosylation disorder type 2I (COG5)

Cost: 45000.00  Test Offer

Glycosylation disorder type 2J (COG4)

Cost: 45000.00  Test Offer

Glycosylation disorder type 2K (TMEM165)

Cost: 45000.00  Test Offer

Glycosylation disorder type 2M (SLC35A2)

Cost: 45000.00  Test Offer

Glycosylation disorder type 3 (COG6)

Cost: 45000.00  Test Offer

Glycosylation disorder type IR (DDOST)

Cost: 45000.00  Test Offer

Glycosylation disorder x-linked (SSR4)

Cost: 45000.00  Test Offer

GM1-gangliosidosis type 1 (GLB1)

Cost: 45000.00  Test Offer

GM1-gangliosidosis type 2 (GLB1)

Cost: 45000.00  Test Offer

GM2-gangliosidosis type 2 (HEXB)

Cost: 45000.00  Test Offer

Granulomatous disease chronic autosomal recessive cytochrome b- positive type 1 (NCF1)

Cost: 45000.00  Test Offer

Guanidinoacetate methyltransferase deficiency (GAMT)

Cost: 45000.00  Test Offer

Hartnup disorder (SLC6A19)

Cost: 45000.00  Test Offer

Hawkinsinuria (HPD)

Cost: 45000.00  Test Offer

Hemangioblastoma cerebellar somatic (VHL)

Cost: 45000.00  Test Offer

Hemangioma capillary infantile (ANTXR1)

Cost: 45000.00  Test Offer

Hemangioma capillary infantile familial susceptibility to (KDR)

Cost: 45000.00  Test Offer

Hemochromatosis classical (HFE)

Cost: 45000.00  Test Offer

Hemochromatosis type 2A (HFE2)

Cost: 45000.00  Test Offer

Hemochromatosis type 2B (HAMP)

Cost: 45000.00  Test Offer

Hemochromatosis type 3 (TFR2)

Cost: 45000.00  Test Offer

Hemochromatosis type 4 (SLC40A1)

Cost: 45000.00  Test Offer

Hemophilia A (F8)

Cost: 45000.00  Test Offer

Hepatoblastoma somatic (APC)

Cost: 45000.00  Test Offer

Hepatocellular carcinoma somatic (CTNNB1)

Cost: 45000.00  Test Offer

Hepatocellular carcinoma somatic (IGF2R)

Cost: 45000.00  Test Offer

Hepatocellular carcinoma somatic (TP53)

Cost: 45000.00  Test Offer

Hereditary breast and ovarian cancer syndrome RAD50 related (RAD50)

Cost: 45000.00  Test Offer

Holocarboxylase synthetase deficiency (HLCS)

Cost: 45000.00  Test Offer

Hurler syndrome (IDUA)

Cost: 45000.00  Test Offer

Hurler-Scheie syndrome (IDUA)

Cost: 45000.00  Test Offer

Hypercalcemia infantile type (CYP24A1)

Cost: 45000.00  Test Offer

Hypercholanemia (BAAT)

Cost: 45000.00  Test Offer

Hypercholanemia (TJP2)

Cost: 45000.00  Test Offer

Hypercholesterolemia (ABCA1)

Cost: 45000.00  Test Offer

Hypercholesterolemia autosomal dominant type 3 (PCSK9)

Cost: 45000.00  Test Offer

Hypercholesterolemia autosomal recessive (LDLRAP1)

Cost: 45000.00  Test Offer

Hypercholesterolemia due to LDL-receptor-disorder autosomal dominant (LDLR)

Cost: 45000.00  Test Offer

Hypercholesterolemia type B autosomanl dominant (APOB)

Cost: 45000.00  Test Offer

Hyperchylomicronemia type 5 (APOA5)

Cost: 45000.00  Test Offer

Hypereosinophilic syndrome idiopathic resistant to imatinib (PDGFRA)

Cost: 45000.00  Test Offer

Hyperinsulinaemia association with G6PC2 related (G6PC2)

Cost: 45000.00  Test Offer

Hyperinsulinemic hypoglycemia type 1 (ABCC8)

Cost: 45000.00  Test Offer

Hyperinsulinemic hypoglycemia type 2 (KCNJ11)

Cost: 45000.00  Test Offer

Hyperinsulinemic hypoglycemia type 3 (GCK)

Cost: 45000.00  Test Offer

Hyperinsulinemic hypoglycemia type 6 (GLUD1)

Cost: 45000.00  Test Offer

Hyperinsulinemic hypoglycemia type 7 (SLC16A1)

Cost: 45000.00  Test Offer

Hyperinsulinism UCP2 related (UCP2)

Cost: 45000.00  Test Offer

Hyperlipidemia familial combined susceptibility to (USF1)

Cost: 45000.00  Test Offer

Hyperlipoproteinemia type 1 (LPL)

Cost: 45000.00  Test Offer

Hyperlysinemia type 1 (AASS)

Cost: 45000.00  Test Offer

Hypermanganesemia with dystonia polycythemia and cirrhosis (SLC30A10)

Cost: 45000.00  Test Offer

Hypermethioninemia due to adenosine kinase deficiency (ADK)

Cost: 45000.00  Test Offer

Hyperornithinemia- HyperammonemiaHomocitrullinuria syndrome (SLC25A15)

Cost: 45000.00  Test Offer

Hyperoxaluria type 1 (AGXT)

Cost: 45000.00  Test Offer

Hyperoxaluria type 2 (GRHPR)

Cost: 45000.00  Test Offer

Hyperoxaluria type 3 (HOGA1)

Cost: 45000.00  Test Offer

Hyperoxaluria SLC26A6 related (SLC26A6)

Cost: 45000.00  Test Offer

Hyperphenylalaninemia BH4 deficient type C (QDPR)

Cost: 45000.00  Test Offer

Hyperphenylalaninemia BH4 deficient type D (PCBD1)

Cost: 45000.00  Test Offer

Hyperphenylalaninemia BH4-deficient type A (PTS)

Cost: 45000.00  Test Offer

Hyperprolinemia type 1 (PRODH)

Cost: 45000.00  Test Offer

Hypertriglyceridemia susceptibility to (LIPI)

Cost: 45000.00  Test Offer

Hypoaldosteronism congenital due to CMO I deficiency (CYP11B2)

Cost: 45000.00  Test Offer

Hypoaldosteronism congenital due to CMO II deficiency (CYP11B2)

Cost: 45000.00  Test Offer

Hypoalphalipoproteinemia (APOA1)

Cost: 45000.00  Test Offer

Hypocalcemia autosomal dominant 2 (GNA11)

Cost: 45000.00  Test Offer

Hypocalciuric hypercalcemia familial type 3 (AP2S1)

Cost: 45000.00  Test Offer

Hypoglycemia of infancy leucine-sensitive (ABCC8)

Cost: 45000.00  Test Offer

Hypoinsulinemic hypoglycemia with hemihypertrophy (AKT2)

Cost: 45000.00  Test Offer

Hypomagnesemia type 1 (TRPM6)

Cost: 45000.00  Test Offer

Hypomagnesemia type 2 (FXYD2)

Cost: 45000.00  Test Offer

Hypomagnesemia type 3 (CLDN16)

Cost: 45000.00  Test Offer

Hypomagnesemia type 4 (EGF)

Cost: 45000.00  Test Offer

Hypomagnesemia type 5 (CLDN19)

Cost: 45000.00  Test Offer

Hypomagnesemia type 6 (CNNM2)

Cost: 45000.00  Test Offer

Hypophosphatasia adult (ALPL)

Cost: 45000.00  Test Offer

Hypophosphatasia childhood (ALPL)

Cost: 45000.00  Test Offer

Hypophosphatasia infantile (ALPL)

Cost: 45000.00  Test Offer

Hypophosphatemic rickets with hypercalciuria (SLC34A3)

Cost: 45000.00  Test Offer

Hypouricemia renal type 1 (SLC22A12)

Cost: 45000.00  Test Offer

Hypouricemia renal type 2 (SLC2A9)

Cost: 45000.00  Test Offer

IDH1 selective sequencing of exon 4 (IDH1)

Cost: 45000.00  Test Offer

IDH2 selective sequencing of exon 4 (IDH2)

Cost: 45000.00  Test Offer

Insulin-like growth factor resistance (IGF1R)

Cost: 45000.00  Test Offer

Isobutyryl-CoA dehydrogenase deficiency (ACAD8)

Cost: 45000.00  Test Offer

Isovaleric acidemia (IVD)

Cost: 45000.00  Test Offer

JAK2 selective sequencing of exons 12 14 and 16 (JAK2)

Cost: 45000.00  Test Offer

Juvenile polyposis syndrome (BMPR1A)

Cost: 45000.00  Test Offer

Juvenile polyposis syndrome (SMAD4)

Cost: 45000.00  Test Offer

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)

Cost: 45000.00  Test Offer

KIT selective sequencing of exons 8 9 11 13 and 17 (KIT)

Cost: 45000.00  Test Offer

Krabbe disease (GALC)

Cost: 45000.00  Test Offer

KRAS somatic Hotspot: c.35G>A p.G12D (KRAS)

Cost: 45000.00  Test Offer

KRAS somatic Hotspot: c.35G>T p.G12V (KRAS)

Cost: 45000.00  Test Offer

KRAS somatic Hotspot: c.38G>A p.G13D (KRAS)

Cost: 45000.00  Test Offer

L-2-hydroxyglutaric aciduria (L2HGDH)

Cost: 45000.00  Test Offer

Lactase deficiency congenital (LCT)

Cost: 45000.00  Test Offer

Lacticacidemia due to PDX1 deficiency (PDHX)

Cost: 45000.00  Test Offer

Lactose intolerance adult type (MCM6)

Cost: 45000.00  Test Offer

LCAD deficiency (ACADL)

Cost: 45000.00  Test Offer

LCAT DEFICIENCY (LCAT)

Cost: 45000.00  Test Offer

Leukemia acute lymphoblastic (IKZF1)

Cost: 45000.00  Test Offer

Leukemia acute lymphoblastic susceptibility to (PAX5)

Cost: 45000.00  Test Offer

Leukemia acute lymphoblastic susceptibility to due to PAX5 germline mutation (PAX5)

Cost: 45000.00  Test Offer

Leukemia acute myelogenous (JAK2)

Cost: 45000.00  Test Offer

Leukemia acute myelogenous (KRAS)

Cost: 45000.00  Test Offer

Leukemia acute myeloid (KIT)

Cost: 45000.00  Test Offer

Leukemia acute myeloid (RUNX1)

Cost: 45000.00  Test Offer

Leukemia acute myeloid somatic (CEBPA)

Cost: 45000.00  Test Offer

Leukemia juvenile myelomonocytic (PTPN11)

Cost: 45000.00  Test Offer

Leukemia lymphoblastic and myeloid EZH2 related (EZH2)

Cost: 45000.00  Test Offer

Leukemia megakaryoblastic with or without Down syndrome somatic (GATA1)

Cost: 45000.00  Test Offer

Leukemia myeloid acute form due to CEBPA germline mutation (CEBPA)

Cost: 45000.00  Test Offer

Leukocyte adhesion deficiency (ITGB1)

Cost: 45000.00  Test Offer

Leukocyte adhesion deficiency (ITGB2)

Cost: 45000.00  Test Offer

Li-Fraumeni syndrome type 1 (TP53)

Cost: 45000.00  Test Offer

Li-Fraumeni syndrome type 2 (CHEK2)

Cost: 45000.00  Test Offer

Lipodystrophy generalized type 1 (AGPAT2)

Cost: 45000.00  Test Offer

Lipodystrophy generalized type 2 (BSCL2)

Cost: 45000.00  Test Offer

Lipodystrophy generalized type 4 (PTRF)

Cost: 45000.00  Test Offer

Lipodystrophy type 2 familial partial (LMNA)

Cost: 45000.00  Test Offer

Lipodystrophy familial partial type 3 (PPARG)

Cost: 45000.00  Test Offer

Lipoma somatic (MEN1)

Cost: 45000.00  Test Offer

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (HADHA)

Cost: 45000.00  Test Offer

Lung alpha-beta hydrolase deficiency type 1 (ABHD1)

Cost: 45000.00  Test Offer

Lung cancer somatic (KRAS)

Cost: 45000.00  Test Offer

Lung cancer SOX2 related somatic (SOX2)

Cost: 45000.00  Test Offer

Lymphangioleiomyomatosis somatic (TSC2)

Cost: 45000.00  Test Offer

Lymphoma B-cell type (BCL6)

Cost: 45000.00  Test Offer

Lymphoma follicular somatic (BCL10)

Cost: 45000.00  Test Offer

Lymphoma MALT somatic (BCL10)

Cost: 45000.00  Test Offer

Lynch syndrome-like tumors MLH1 related somatic (MLH1)

Cost: 45000.00  Test Offer

Lysosomal acid phosphatase deficiency (ACP2)

Cost: 45000.00  Test Offer

Macroglobulinemia Waldenstrom somatic (MYD88)

Cost: 45000.00  Test Offer

Male germ cell tumor somatic (BCL10)

Cost: 45000.00  Test Offer

Malonyl-CoA decarboxylase deficiency (MLYCD)

Cost: 45000.00  Test Offer

Mannose-binding protein deficiency (MBL2)

Cost: 45000.00  Test Offer

Mannosidosis beta A lysosomal-like (MANBAL)

Cost: 45000.00  Test Offer

Mannosidosis-alpha (MAN2B1)

Cost: 45000.00  Test Offer

Mannosidosis-beta (MANBA)

Cost: 45000.00  Test Offer

Maple sirup urine disease type 2 (DBT)

Cost: 45000.00  Test Offer

Maple sirup urine disease type 3 (DLD)

Cost: 45000.00  Test Offer

Maple syrup urine disease type 1a (BCKDHA)

Cost: 45000.00  Test Offer

Maple syrup urine disease type 1b (BCKDHB)

Cost: 45000.00  Test Offer

Maple syrup urine disease mild variant (PPM1K)

Cost: 45000.00  Test Offer

Maturity-onset diabetes of the young type 1 (HNF4A)

Cost: 45000.00  Test Offer

Maturity-onset diabetes of the young type 10 (INS)

Cost: 45000.00  Test Offer

Maturity-onset diabetes of the young type 11 (BLK)

Cost: 45000.00  Test Offer

Maturity-onset diabetes of the young type 2 (GCK)

Cost: 45000.00  Test Offer

Maturity-onset diabetes of the young type 3 (HNF1A)

Cost: 45000.00  Test Offer

Maturity-onset diabetes of the young type 4 (PDX1)

Cost: 45000.00  Test Offer

Maturity-onset diabetes of the young type 5 (HNF1B)

Cost: 45000.00  Test Offer

Maturity-onset diabetes of the young type 6 (NEUROD1)

Cost: 45000.00  Test Offer

Maturity-onset diabetes of the young type 7 (KLF11)

Cost: 45000.00  Test Offer

Maturity-onset diabetes of the young type 8 (CEL)

Cost: 45000.00  Test Offer

Maturity-onset diabetes of the young type 9 (PAX4)

Cost: 45000.00  Test Offer

Maturity-onset diabetes of the young NKX2-2 related (NKX2-2)

Cost: 45000.00  Test Offer

Maturity-onset diabetes of the young RFX6 related (RFX6)

Cost: 45000.00  Test Offer

Maturity-onset diabetes of the young ZFP57 related (ZFP57)

Cost: 45000.00  Test Offer

Mediterranean fever (MEFV)

Cost: 45000.00  Test Offer

Medullary thyroid carcinoma somatic (RET)

Cost: 45000.00  Test Offer

Medulloblastoma desmoplastic familial (SUFU)

Cost: 45000.00  Test Offer

Melanocytic nevus syndrome congenital somatic (NRAS)

Cost: 45000.00  Test Offer

Melanoma cutaneous malignant (MC1R)

Cost: 45000.00  Test Offer

Melanoma cutaneous malignant (MITF)

Cost: 45000.00  Test Offer

Melanoma cutaneous malignant familial (CDKN2A)

Cost: 45000.00  Test Offer

Melanoma cutaneous malignant familial type 10 susceptibility to (POT1)

Cost: 45000.00  Test Offer

Melanoma cutaneous malignant familial type 6 susceptibility to (XRCC3)

Cost: 45000.00  Test Offer

Melanoma cutaneous malignant familial CDK4 related (CDK4)

Cost: 45000.00  Test Offer

Melanoma malignant somatic (BRAF)

Cost: 45000.00  Test Offer

Melanoma malignant somatic (STK11)

Cost: 45000.00  Test Offer

MELAS syndrome MT-TL1 related (NGS Sequencing: MT-TL1)

Cost: 45000.00  Test Offer

Meningioma familial PDGFB related (PDGFB)

Cost: 45000.00  Test Offer

Meningioma familial susceptibility to (SMARCE1)

Cost: 45000.00  Test Offer

Meningioma familial susceptibility to (SUFU)

Cost: 45000.00  Test Offer

Meningioma MN1 deficiency related (MN1)

Cost: 45000.00  Test Offer

Meningioma NF2-related somatic (NF2)

Cost: 45000.00  Test Offer

Mesothelioma somatic (BCL10)

Cost: 45000.00  Test Offer

Mesothelioma somatic (WT1)

Cost: 45000.00  Test Offer

Metachromatic Leukodystrophy (ARSA)

Cost: 45000.00  Test Offer

Methylacetoacetic aciduria (ACAT1)

Cost: 45000.00  Test Offer

Methylcobalamin deficiency CblG type (MTR)

Cost: 45000.00  Test Offer

Methylmalonate semialdehyde dehydrogenase deficiency (ALDH6A1)

Cost: 45000.00  Test Offer

Methylmalonic aciduria Cb1D type (MMADHC)

Cost: 45000.00  Test Offer

Methylmalonic aciduria Cb1F type (LMBRD1)

Cost: 45000.00  Test Offer

Methylmalonic aciduria Cb1J type (ABCD4)

Cost: 45000.00  Test Offer

Methylmalonic aciduria CbIA type (MMAA)

Cost: 45000.00  Test Offer

Methylmalonic aciduria CbIC type (MMACHC)

Cost: 45000.00  Test Offer

Methylmalonic aciduria CbIR type (CD320)

Cost: 45000.00  Test Offer

Methylmalonic aciduria CblB type (MMAB)

Cost: 45000.00  Test Offer

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MUT)

Cost: 45000.00  Test Offer

Methylmalonyl-CoA epimerase deficiency (MCEE)

Cost: 45000.00  Test Offer

Mevalonic aciduria (MVK)

Cost: 45000.00  Test Offer

Microvascular complications of diabetes type 1 (VEGFA)

Cost: 45000.00  Test Offer

Microvascular complications of diabetes type 6 susceptibility to (SOD2)

Cost: 45000.00  Test Offer

Mitochondrial complex III deficiency nuclear type 7 (UQCC2)

Cost: 45000.00  Test Offer

Mitochondrial pyruvate carrier deficiency (MPC1)

Cost: 45000.00  Test Offer

Molybdenum cofactor deficiency type A (MOCS1)

Cost: 45000.00  Test Offer

Molybdenum cofactor deficiency type B (MOCS2)

Cost: 45000.00  Test Offer

Molybdenum cofactor deficiency type C (GPHN)

Cost: 45000.00  Test Offer

Monocarboxylate transporter 1 deficiency (SLC16A1)

Cost: 45000.00  Test Offer

Mucolipidosis type 2 alpha/beta (GNPTAB)

Cost: 45000.00  Test Offer

Mucolipidosis type 3 (GNPTAB)

Cost: 45000.00  Test Offer

Mucolipidosis type 3 gamma (GNPTG)

Cost: 45000.00  Test Offer

Mucolipidosis type 4 (MCOLN1)

Cost: 45000.00  Test Offer

Mucopolysaccharidosis type 2 (IDS)

Cost: 45000.00  Test Offer

Mucopolysaccharidosis type 3A (SGSH)

Cost: 45000.00  Test Offer

Mucopolysaccharidosis type 3B (NAGLU)

Cost: 45000.00  Test Offer

Mucopolysaccharidosis type 3C (HGSNAT)

Cost: 45000.00  Test Offer

Mucopolysaccharidosis type 3D (GNS)

Cost: 45000.00  Test Offer

Mucopolysaccharidosis type 4A (GALNS)

Cost: 45000.00  Test Offer

Mucopolysaccharidosis type 4B (GLB1)

Cost: 45000.00  Test Offer

Mucopolysaccharidosis type 6 (ARSB)

Cost: 45000.00  Test Offer

Mucopolysaccharidosis type 7 (GUSB)

Cost: 45000.00  Test Offer

Mucopolysaccharidosis type 9 (HYAL1)

Cost: 45000.00  Test Offer

Mucopolysaccharidosis type IH (IDUA)

Cost: 45000.00  Test Offer

Multiple endocrine neoplasia type 1 CDKN2B related (CDKN2B)

Cost: 45000.00  Test Offer

Multiple endocrine neoplasia type 2A (RET)

Cost: 45000.00  Test Offer

Multiple endocrine neoplasia type 2B (RET)

Cost: 45000.00  Test Offer

Multiple endocrine neoplasia type 4 (CDKN1B)

Cost: 45000.00  Test Offer

Muscle glycogenosis (PHKA1)

Cost: 45000.00  Test Offer

Myelodysplastic syndrome somatic (TET2)

Cost: 45000.00  Test Offer

Myelofibrosis with myeloid metaplasia somatic (MPL)

Cost: 45000.00  Test Offer

Myelofibrosis somatic (JAK2)

Cost: 45000.00  Test Offer

Myoadenylate deaminase deficiency (AMPD1)

Cost: 45000.00  Test Offer

Myxoma intracardiac (PRKAR1A)

Cost: 45000.00  Test Offer

N-acetylglutamate synthase deficiency (NAGS)

Cost: 45000.00  Test Offer

Nasopharyngeal carcinoma somatic (TP53)

Cost: 45000.00  Test Offer

Neuraminidase deficiency (NEU1)

Cost: 45000.00  Test Offer

Neurocutaneous melanosis somatic (NRAS)

Cost: 45000.00  Test Offer

Neurofibromatosis type 1 (NF1)

Cost: 45000.00  Test Offer

Neurofibromatosis type 1 -like syndrome (SPRED1)

Cost: 45000.00  Test Offer

Neurofibromatosis type 2 (NF2)

Cost: 45000.00  Test Offer

Nevus sebaceous HRAS related somatic (HRAS)

Cost: 45000.00  Test Offer

Nevus epidermal somatic (FGFR3)

Cost: 45000.00  Test Offer

Niemann-Pick disease type A/B (SMPD1)

Cost: 45000.00  Test Offer

Niemann-Pick disease type C1 (NPC1)

Cost: 45000.00  Test Offer

Niemann-Pick disease type C2 (NPC2)

Cost: 45000.00  Test Offer

Nonpolyposis hereditary colon cancer (PMS1)

Cost: 45000.00  Test Offer

Nonsmall cell lung cancer familial susceptibility to (EGFR)

Cost: 45000.00  Test Offer

Nonsmall cell lung cancer responsive to tyrosin kinase inhibitor somatic EGFR related (EGFR)

Cost: 45000.00  Test Offer

Nonsmall cell lung cancer somatic (BRAF)

Cost: 45000.00  Test Offer

NRAS somatic Hotspot: c.181C>A p.Q61K (NRAS)

Cost: 45000.00  Test Offer

NRAS somatic Hotspot: c.182A>G p.Q61R (NRAS)

Cost: 45000.00  Test Offer

NRAS somatic Hotspot: c.34G>T p.G12C (NRAS)

Cost: 45000.00  Test Offer

NRAS somatic Hotspot: c.35G>A p.G12D (NRAS)

Cost: 45000.00  Test Offer

Odontohypophosphatasia (ALPL)

Cost: 45000.00  Test Offer

Ornithine transcarbamoylase deficiency (OTC)

Cost: 45000.00  Test Offer

Orolaryngeal cancer multiple somatic (CDKN2A)

Cost: 45000.00  Test Offer

Orotic aciduria (UMPS)

Cost: 45000.00  Test Offer

Ovarian cancer somatic (CTNNB1)

Cost: 45000.00  Test Offer

Ovarian cancer somatic (ERBB2)

Cost: 45000.00  Test Offer

Ovarian carcinoma somatic (CDH1)

Cost: 45000.00  Test Offer

Ovarian clear-cell carcinoma ARID1A related somatic (ARID1A)

Cost: 45000.00  Test Offer

Pancreatic agenesis type 2 (PTF1A)

Cost: 45000.00  Test Offer

Pancreatic and cerebellar agenesis (PTF1A)

Cost: 45000.00  Test Offer

Pancreatic cancer type 3 susceptibility to (PALB2)

Cost: 45000.00  Test Offer

Pancreatic cancer somatic (SMAD4)

Cost: 45000.00  Test Offer

Pancreatic cancer somatic (STK11)

Cost: 45000.00  Test Offer

Pancreatic cancer somatic (TP53)

Cost: 45000.00  Test Offer

Pancreatic cancer/melanoma syndrome somatic (CDKN2A)

Cost: 45000.00  Test Offer

Pancreatic carcinoma somatic (KRAS)

Cost: 45000.00  Test Offer

Paragangliomas type 4 (SDHB)

Cost: 45000.00  Test Offer

Parathyroid adenoma somatic (MEN1)

Cost: 45000.00  Test Offer

Pentosuria (DCXR)

Cost: 45000.00  Test Offer

Periodic fever autosomal dominant (TNFRSF1A)

Cost: 45000.00  Test Offer

Peutz-Jeghers syndrome (STK11)

Cost: 45000.00  Test Offer

Peutz-Jeghers syndrome somatic (STK11)

Cost: 45000.00  Test Offer

Phenylketonuria (PAH)

Cost: 45000.00  Test Offer

Phenylketonuria modifier SLC7A5 related (SLC7A5)

Cost: 45000.00  Test Offer

Pheochromocytoma type 1 (SDHA)

Cost: 45000.00  Test Offer

Pheochromocytoma type 2 (SDHB)

Cost: 45000.00  Test Offer

Pheochromocytoma type 3 (SDHC)

Cost: 45000.00  Test Offer

Pheochromocytoma type 4 (SDHD)

Cost: 45000.00  Test Offer

Pheochromocytoma type 5 (SDHAF2)

Cost: 45000.00  Test Offer

Pheochromocytoma type 8 (TMEM127)

Cost: 45000.00  Test Offer

Pheochromocytoma type 9 (MAX)

Cost: 45000.00  Test Offer

Phosphoenolpyruvate carboxykinase deficiency cytosolic (PCK1)

Cost: 45000.00  Test Offer

Phosphoenolpyruvate carboxykinase deficiency mitochondrial (PCK2)

Cost: 45000.00  Test Offer

Phosphoglycerate dehydrogenase deficiency (PHGDH)

Cost: 45000.00  Test Offer

Phosphoribosylpyrophosphate synthetase superactivity (PRPS1)

Cost: 45000.00  Test Offer

Phosphoserine aminotransferase deficiency (PSAT1)

Cost: 45000.00  Test Offer

Phosphoserine phosphatase deficiency (PSPH)

Cost: 45000.00  Test Offer

PIK3CA related overgrowth spectrum somatic (PIK3CA)

Cost: 45000.00  Test Offer

Pituitary stalk interruption syndrome GPR161 related (GPR161)

Cost: 45000.00  Test Offer

Pleuropulmonary blastoma (DICER1)

Cost: 45000.00  Test Offer

Polycythemia vera somatic (JAK2)

Cost: 45000.00  Test Offer

Polyposis syndrome hereditary mixed (GREM1)

Cost: 45000.00  Test Offer

Polyposis syndrome hereditary mixed type 2 (BMPR1A)

Cost: 45000.00  Test Offer

Pompe disease (GAA)

Cost: 45000.00  Test Offer

Porphyria acute intermittent (HMBS)

Cost: 45000.00  Test Offer

Porphyria congenital erythropoietic (UROS)

Cost: 45000.00  Test Offer

Porphyria variegata (PPOX)

Cost: 45000.00  Test Offer

Prolidase deficiency (PEPD)

Cost: 45000.00  Test Offer

Propionic acidemia (PCCA)

Cost: 45000.00  Test Offer

Propionic acidemia (PCCB)

Cost: 45000.00  Test Offer

Prosaposin deficiency (PSAP)

Cost: 45000.00  Test Offer

Prostate cancer (BRCA2)

Cost: 45000.00  Test Offer

Prostate cancer (SRD5A2)

Cost: 45000.00  Test Offer

Prostate cancer (STAG1)

Cost: 45000.00  Test Offer

Prostate cancer (ZNF783)

Cost: 45000.00  Test Offer

Prostate cancer familial association with (HOXB13)

Cost: 45000.00  Test Offer

Prostate cancer hereditary type 1 (RNASEL)

Cost: 45000.00  Test Offer

Prostate cancer hereditary type 2 susceptibility to (ELAC2)

Cost: 45000.00  Test Offer

Prostate cancer somatic (KLF6)

Cost: 45000.00  Test Offer

Prostate tumor AR related somatic (AR)

Cost: 45000.00  Test Offer

Protoporphyria erythropoietic X-linked (ALAS2)

Cost: 45000.00  Test Offer

Pseudohermaphroditism with gynecomastia (HSD17B3)

Cost: 45000.00  Test Offer

Pyridoxamine 5'-phosphate oxidase deficiency (PNPO)

Cost: 45000.00  Test Offer

Pyruvate carboxylase deficiency (PC)

Cost: 45000.00  Test Offer

Pyruvate dehydrogenase E1-alpha deficiency (PDHA1)

Cost: 45000.00  Test Offer

Pyruvate dehydrogenase E1-beta deficiency (PDHB)

Cost: 45000.00  Test Offer

Pyruvate dehydrogenase E2 deficiency (DLAT)

Cost: 45000.00  Test Offer

Pyruvate dehydrogenase lipoic acid synthetase deficiency (LIAS)

Cost: 45000.00  Test Offer

Pyruvate dehydrogenase phosphatase deficiency (PDP1)

Cost: 45000.00  Test Offer

Pyruvate kinase deficiency with hemolytic anemia (PKLR)

Cost: 45000.00  Test Offer

Refsum disease (PEX7)

Cost: 45000.00  Test Offer

Refsum disease (PHYH)

Cost: 45000.00  Test Offer

Renal cancer KDM6A related somatic (KDM6A)

Cost: 45000.00  Test Offer

Renal carcinoma chromophobe somatic (FLCN)

Cost: 45000.00  Test Offer

Renal carcinoma Tuberous sclerosis-associated somatic (TSC1)

Cost: 45000.00  Test Offer

Renal cell carcinoma papillary type 1 familial (MET)

Cost: 45000.00  Test Offer

Renal cell carcinoma papillary type 1 somatic (MET)

Cost: 45000.00  Test Offer

Renal cell carcinoma somatic (VHL)

Cost: 45000.00  Test Offer

RET selective sequencing of exons 5 8 10 11 and 13-16 (RET)

Cost: 45000.00  Test Offer

Rhabdoid tumors somatic (SMARCB1)

Cost: 45000.00  Test Offer

Riboflavin deficiency (SLC52A1)

Cost: 45000.00  Test Offer

Riboflavinresponsive multiple acyl-CoA dehydrogenase deficiency (ETFDH)

Cost: 45000.00  Test Offer

Rickets vitamin D 25-hydroxylation-deficient type 1B (CYP2R1)

Cost: 45000.00  Test Offer

Saccharopinuria (AASS)

Cost: 45000.00  Test Offer

Sandhoff disease (HEXB)

Cost: 45000.00  Test Offer

Sarcosinemia (SARDH)

Cost: 45000.00  Test Offer

Scheie syndrome (IDUA)

Cost: 45000.00  Test Offer

Schindler disease (NAGA)

Cost: 45000.00  Test Offer

Serine hydrolase deficiency SERHL2 related (SERHL2)

Cost: 45000.00  Test Offer

Small cell ovarian carcinoma hypercalcemic type SMARCA4 related somatic (SMARCA4)

Cost: 45000.00  Test Offer

Spermatocytic seminoma somatic (FGFR3)

Cost: 45000.00  Test Offer

Spiegler-Brooke syndrome (CYLD)

Cost: 45000.00  Test Offer

Squamous cell carcinoma burn scar-related somatic (FAS)

Cost: 45000.00  Test Offer

Succinic semialdehyde dehydrogenase deficiency (ALDH5A1)

Cost: 45000.00  Test Offer

Succinyl CoA:3-oxoacid CoA transferase deficiency (OXCT1)

Cost: 45000.00  Test Offer

Sucrase-isomaltase deficiency (SI)

Cost: 45000.00  Test Offer

Sulfatase deficiency (SUMF1)

Cost: 45000.00  Test Offer

Sulfite oxidase deficiency (SUOX)

Cost: 45000.00  Test Offer

Surfactant metabolism dysfunction (SFTPD)

Cost: 45000.00  Test Offer

Surfactant metabolism dysfunction type 1 (SFTPB)

Cost: 45000.00  Test Offer

Surfactant metabolism dysfunction type 2 (SFTPC)

Cost: 45000.00  Test Offer

Surfactant metabolism dysfunction type 3 (ABCA3)

Cost: 45000.00  Test Offer

Surfactant metabolism dysfunction type 4 (CSF2RA)

Cost: 45000.00  Test Offer

Surfactant metabolism dysfunction type 5 (CSF2RB)

Cost: 45000.00  Test Offer

Tangier disease (ABCA1)

Cost: 45000.00  Test Offer

Tay-Sachs disease (HEXA)

Cost: 45000.00  Test Offer

Tay-Sachs disease AB variant (GM2A)

Cost: 45000.00  Test Offer

Testicular tumor somatic (STK11)

Cost: 45000.00  Test Offer

Thiamine metabolism dysfunction syndrome type 5 (TPK1)

Cost: 45000.00  Test Offer

Thrombocythemia type 3 somatic (JAK2)

Cost: 45000.00  Test Offer

Thyroid adenoma hyperfunctioning somatic (TSHR)

Cost: 45000.00  Test Offer

Thyroid carcinoma with thyrotoxicosis (TSHR)

Cost: 45000.00  Test Offer

Thyroid carcinoma follicular HRAS related somatic (HRAS)

Cost: 45000.00  Test Offer

Thyroid carcinoma follicular somatic (NRAS)

Cost: 45000.00  Test Offer

TJP1 deficiency (TJP1)

Cost: 45000.00  Test Offer

TPMT deficiency (TPMT)

Cost: 45000.00  Test Offer

Transaldolase defeciency (TALDO1)

Cost: 45000.00  Test Offer

Transcobalamin II deficiency (TCN2)

Cost: 45000.00  Test Offer

Trichoepithelioma multiple familial type 1 (CYLD)

Cost: 45000.00  Test Offer

Trifunctional protein deficiency (HADHA)

Cost: 45000.00  Test Offer

Trimethylaminuria (FMO3)

Cost: 45000.00  Test Offer

Triosephosphate isomerase deficiency (TPI1)

Cost: 45000.00  Test Offer

Tumor predisposition syndrome (BAP1)

Cost: 45000.00  Test Offer

Tumor predisposition syndrome ARL11 related (ARL11)

Cost: 45000.00  Test Offer

Tylosis with esophageal cancer (RHBDF2)

Cost: 45000.00  Test Offer

Tyrosine kinase 2 deficiency (TYK2)

Cost: 45000.00  Test Offer

Tyrosinemia type 1 (FAH)

Cost: 45000.00  Test Offer

Tyrosinemia type 1B (GSTZ1)

Cost: 45000.00  Test Offer

Tyrosinemia type 2 (TAT)

Cost: 45000.00  Test Offer

Tyrosinemia type 3 (HPD)

Cost: 45000.00  Test Offer

Urbach-Wiethe disease (ECM1)

Cost: 45000.00  Test Offer

Uveal melanoma GNAQ related somatic (GNAQ)

Cost: 45000.00  Test Offer

Various cancers DICER1 related somatic (DICER1)

Cost: 45000.00  Test Offer

von Hippel-Lindau syndrome (VHL)

Cost: 45000.00  Test Offer

Von-Gierke disease (G6PC)

Cost: 45000.00  Test Offer

Wilms tumor IGF2 related somatic (IGF2)

Cost: 45000.00  Test Offer

Wilson disease (ATP7B)

Cost: 45000.00  Test Offer

Wolman disease (LIPA)

Cost: 45000.00  Test Offer

Xanthinuria type 1 (XDH)

Cost: 45000.00  Test Offer

GLUT1 deficiency SLC2A1 deletion-duplication analysis

Cost: 12800.00  Test Offer

Glycine encephalopathy GLDC deletion-duplication analysis

Cost: 22400.00  Test Offer

Menkes disease ATP7A deletion-duplication analysis

Cost: 24000.00  Test Offer

Neurometabolic disorder MLC1L2HGDHD2HGDH MLYCD deletion-duplication analysis

Cost: 24000.00  Test Offer

Pompe disease GAA deletion-duplication analysis

Cost: 24000.00  Test Offer