Genetic Conditions tested at Virtus Diagnostics

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Disease
Code
Fur Further Information
a-THALASSEMIA/MENTAL RETARDATION SYNDROME,NONDELETION TYPE, X-LINKED
ATRX
ABCD SYNDROME
EDNRB
ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME
AAAS
ACHONDROGENESIS, TYPE IB ACG1B
SLC26A2
ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF
ACADL
ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN,
ACADM
ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN,
ACADVL
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
CYP21A2
ADRENOLEUKODYSTROPHY
ABCD1
ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM
PEX1
ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM |
PEX10
AGAMMAGLOBULINEMIA, X-LINKED
BTK
AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY ACCPN
SLC12A6
AICARDI-GOUTIERES SYNDROME 1
TREX1
AICARDI-GOUTIERES SYNDROME 2
RNASEH2B
AICARDI-GOUTIERES SYNDROME 3
RNASEH2C
AICARDI-GOUTIERES SYNDROME 4
RNASEH2A
AICARDI-GOUTIERES SYNDROME 5
SAMDH1
ALLAN-HERNDON-DUDLEY SYNDROME AHDS
SLC16A2
ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS
POLG
ALPHA THALASSEMIA
HBA1
ALPHA-METHYLACETOACETIC ACIDURIA
ACAT1
ALPORT SYNDROME, AUTOSOMAL RECESSIVE
COL4A3
ALPORT SYNDROME, X-LINKED
Col4A5
ALSTROM SYNDROME
ALMS1
AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL
MPL
AMISH INFANTILE EPILEPSY SYNDROME
ST3GAL5
ANAUXETIC DYSPLASIA
RMRP
ANHYDROTIC ECTODERMAL DYSPLASIA, IMMUNODEFICIENCY, OSTEOPETROSIS, LYMPHEDEMA OLEDAID
IKBKG
ANTIBODY DEFICIENCY DUE TO ICOS DEFECT
ICOS
ANTLEY-BIXLER SYNDROME
POR
ARGININOSUCCINIC ACIDURIA
ASL
AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
DDC
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY
ENPP1
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS
VPS33B
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2
VIPAR
ARTS SYNDROME
PRPS1
ASPHYXIATING THORACIC DYSTROPHY 2
IFT80
ASPHYXIATING THORACIC DYSTROPHY 3
DYNC2H1
ATAXIA-TELANGIECTASIA
ATM
ATAXIA, EARLY-ONSET, WITH oculomotor apraxia AND HYPOALBUMINEMIA
APTX
ATELOSTEOGENESIS, TYPE II
SLC26A2
ATYPICAL MYCOBACTERIOSIS, FAMILIAL
IFNGR1
AUTOIMMUNE POLYENDOCRINE SYNDROME TYPE I
AIRE
Autosomal mental retardation
NSUN2
Autosomal mental retardation CDG 1Q
SRD5A3