SCIENTIFIC BACKGROUND

ACOX1, AGA, AGL, ALDH3A2, ALDOB, ALMS1, ASNS, ASPA, BBS1, BBS12, BCKDHB, BCS1L, BTD, CFTR, CHM, CLN8, CLRN1, COL4A5, CTSK, CYP19A1, DCLRE1C, DHDDS, DLD, DNAH5, DNAI1, EIF2B5, ELP1, ETFA, EYS, F11, FANCC, FANCG, G6PC, GBA, GLDC, GNE, GNS, HADHA, HAX1, HBB, HEXA, HGSNAT, HMGCL, HOGA1, HYLS1, IDS, IL2RG, IVD, LAMC2, LCA5, LHCGR, LIFR, LIPA, LPL, LRPPRC, MCCC1, MCCC2, MFSD8, MMAA, MMACHC, MMADHC, MMUT, MPV17, MTM1, MTRR, MTTP, NBN, NPHS2, OAT, PAH, PCDH15, PDHB, PEX1, PEX2, PFKM, PKHD1, PMM2, RAB23, RAG2, RLBP1, SAMHD1, SEPSECS, SGCB, SLC12A6, SLC25A13, SLC25A15, SLC26A4, SLC35A3, SLC37A4, SLC7A7, SUMF1, TGM1, TMEM216, TPP1, TSFM, UGT1A1, VPS13A, VPS53, VRK1.

Category:

Background

VERAgene is the only non-invasive prenatal test that can simultaneously screen for aneuploidies, microdeletions and 100 single gene diseases. For the screening of monogenic diseases, VERAgene screens over 2,000 mutations on 99 genes.

 

What diseases are associated with the genes tested in this panel?

3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency

3-Methylcrotonyl-CoA Carboxylase Deficiency 1

3-Methylcrotonyl-CoA Carboxylase Deficiency 2
Abetalipoproteinemia
Acyl-CoA Oxidase I Deficiency
Aicardi-Goutières Syndrome
Alport Syndrome, X-Linked

Alstrom Syndrome

Andermann Syndrome

Aromatase Deficiency
Arthrogryposis Mental Retardation Seizures
Asparagine Synthetase Deficiency
Aspartylglycosaminuria
Autosomal Recessive Polycystic Kidney Disease
Bardet-Biedl Syndrome (BBS1-related)
Bardet Biedl Syndrome (BBS12-related)

Beta Thalassemia
Biotinidase Deficiency
Canavan Disease
Carpenter Syndrome
Choreacanthocytosis
Choroideremia, X-Linked
Citrin Deficiency
Combined Oxidative Phosphorylation Deficiency 3
Congenital Disorder of Glycosylation, Type 1A (PMM2-related)
Congenital Neutropenia (HAX1-related)
Crigler Najjar Syndrome, Type I
Cystic Fibrosis (Mutations tested cause the Classic Cystic Fibrosis phenotype)

Factor XI Deficiency
Familial Dysautonomia
Fanconi Anemia, Type C
Fanconi Anemia, Type G
Gaucher Disease
Glutaric Acidemia, Type 2A
Glycine Encephalopathy (GLDC-related)

Glycogen Storage Disease, Type 1A
Glycogen Storage Disease, Type 1B
Glycogen Storage Disease, Type 3
Glycogen Storage Disease, Type 7
GRACILE Syndrome
Hereditary Fructose Intolerance
Homocystinuria, Type cblE
Hydrolethalus Syndrome
Inclusion Body Myopathy, Type 2

Isovaleric Acidemia
Joubert Syndrome, Type 2
Junctional Epidermolysis Bullosa, Herlitz Type
Lamellar Ichthyosis, Type 1
Leber Congenital Amaurosis (LCA5-related)
Leigh Syndrome, French-Canadian Type
Leukoencephalopathy with Vanishing White Matter

Leydig Cell Hypoplasia [Luteinizing Hormone Resistance]
Limb Girdle Muscular Dystrophy, Type 2E
Lipoamide Dehydrogenase Deficiency [Maple Syrup Urine Disease, Type 3]
Lipoprotein Lipase Deficiency
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
Lysinuric Protein Intolerance
Maple Syrup Urine Disease, Type 1B
Methylmalonic Acidemia (MMAA-related)
Methylmalonic Aciduria, Type mut(0)
Methylmalonic Aciduria and Homocystinuria, Type cblC
Methylmalonic Aciduria and Homocystinuria, Type cblD
Mucopolysaccharidosis, Type II [Hunter Syndrome], X-Linked
Mucopolysaccharidosis, Type IIIC [Sanfilippo C]
Multiple Sulfatase Deficiency
Myotubular Myopathy, X-Linked
Navajo Neurohepatopathy [MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome]

Neuronal Ceroid Lipofuscinosis (CLN8-related)
Neuronal Ceroid Lipofuscinosis (MFSD8-related)
Neuronal Ceroid Lipofuscinosis (TPP1-related)
Nijmegen Breakage Syndrome
Omenn Syndrome (RAG2-related)
Ornithine Aminotransferase Deficiency
Ornithine Translocase Deficiency [Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome]
Pendred Syndrome
Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX1-related)
Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX2-related)
Phenylalanine Hydroxylase Deficiency (Phenylketonuria)
Pontocerebellar Hypoplasia, Type 1A
Pontocerebellar Hypoplasia, Type 2D
Pontocerebellar Hypoplasia, Type 2E
Primary Ciliary Dyskinesia (DNAH5-related)
Primary Ciliary Dyskinesia (DNAI1-related)
Primary Hyperoxaluria, Type 3

Pycnodysostosis
Pyruvate Dehydrogenase Deficiency (PDHB-Related)
Retinal Dystrophy [Bothnia Retinal Dystrophy] (RLBP1-related)
Retinitis Pigmentosa 25 (EYS-related)
Retinitis Pigmentosa 59 (DHDDS-related)
Sanfilippo Syndrome, Type D [Mucopolysaccharidosis IIID]
Severe Combined Immunodeficiency, Type Athabaskan
Severe Combined Immunodeficiency, X-Linked
Sickle-Cell Disease
Sjögren-Larsson Syndrome
Steroid-Resistant Nephrotic Syndrome
Stuve-Wiedemann Syndrome
Tay-Sachs Disease
Usher Syndrome, Type 1F
Usher Syndrome, Type 3
Wolman Disease

GENES

ACOX1, AGA, AGL, ALDH3A2, ALDOB, ALMS1, ASNS, ASPA, BBS1, BBS12, BCKDHB, BCS1L, BTD, CFTR, CHM, CLN8, CLRN1, COL4A5, CTSK, CYP19A1, DCLRE1C, DHDDS, DLD, DNAH5, DNAI1, EIF2B5, ELP1, ETFA, EYS, F11, FANCC, FANCG, G6PC, GBA, GLDC, GNE, GNS, HADHA, HAX1, HBB, HEXA, HGSNAT, HMGCL, HOGA1, HYLS1, IDS, IL2RG, IVD, LAMC2, LCA5, LHCGR, LIFR, LIPA, LPL, LRPPRC, MCCC1, MCCC2, MFSD8, MMAA, MMACHC, MMADHC, MMUT, MPV17, MTM1, MTRR, MTTP, NBN, NPHS2, OAT, PAH, PCDH15, PDHB, PEX1, PEX2, PFKM, PKHD1, PMM2, RAB23, RAG2, RLBP1, SAMHD1, SEPSECS, SGCB, SLC12A6, SLC25A13, SLC25A15, SLC26A4, SLC35A3, SLC37A4, SLC7A7, SUMF1, TGM1, TMEM216, TPP1, TSFM, UGT1A1, VPS13A, VPS53, VRK1.

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