Genetic Conditions tested at Virtus Diagnostics

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Disease
Code
Fur Further Information
CANAVAN DISEASE
ASPA
CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO
CPS1
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE
SCO2
CARDIOMYOPATHY, DILATED, 3A
TAZ
CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
SLC22A5
CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY
CPT1A
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
CPT2
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
CPT2
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
CPT2
CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
SLC25A20
CARPENTER SYNDROME
RAB23
CARTILAGE-HAIR HYPOPLASIA
RMRP
CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL
VLDLR
CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA
SNAP29
CEREBROOCULOFACIOSKELETAL SYNDROME 1
ERCC6
CEREBROTENDINOUS XANTHOMATOSIS
CYP27A1
CEROID LIPOFUSCINOSIS, NEURONAL, 10
CTSD
CEROID LIPOFUSCINOSIS, NEURONAL, 6
CLN6
CEROID LIPOFUSCINOSIS, NEURONAL, 7
MFSD8
CEROID LIPOFUSCINOSIS, NEURONAL, 8
CLN8
CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT
CLN8
CHARCOT-MARIE-TOOTH DISEASE TYPE 4A
GDAP1
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H
FGD4
CHEDIAK HIGASHI SYNDROME
LYST
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC
ABCB4
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1
ATP8B1
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2
ABCB11
CHONDRODYSPLASIA, BLOMSTRAND TYPE
PTH1R
CITRULLINEMIA, CLASSIC
ASS1
COCKAYNE SYNDROME TYPE B
ERCC6
COCKAYNE SYNDROME, TYPE A
ERCC8
COENZYME Q10 DEFICIENCY
PDSS2
COFFIN-LOWRY SYNDROME CLS
RPS6KA3
COHEN SYNDROME
VPS13B
COMBINED IMMUNODEFICIENCY, X-LINKED
IL2RG
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1
GFM1
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2
MRPS16
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3
TSFM
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4
TUFM
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5
MRPS22
COMBINED SAPOSIN DEFICIENCY
PSAP
Complex I Deficiency
NDUFA7
Complex IV deficiency
COX10
CONGENITAL ADRENAL HYPERPLASIA
CYP11B1
CONGENITAL ADRENAL HYPOPLASIA
NR0B1
CONGENITAL DEAFNESS WITH KERATOPACHYDERMIA & CONSTRICTIONS
CONGENITAL DISORDER OF GLYCOSYLATIO, TYPE IIa
MGAT2
CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ia
PMM2
CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ic
ALG6
CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ig
ALG12
CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ii
ALG2
CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIb
MOGS
CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIc
SLC35C1
CONGENITAL DISORDER OF GLYCOSYLATION TYPE IId
B4GALT1
CONGENITAL DISORDER OF GLYCOSYLATION TYPE Iig
COG1
CONGENITAL DISORDER OF GLYCOSYLATION TYPE Iih
COG8
CONGENITAL DISORDER OF GLYCOSYLATION TYPE Im
DOLK
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib
MPI
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id;
ALG3
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie
DPM1
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
MPDU1
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih
ALG8
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iie
COG7
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iif
SLC35A1
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij
DPAGT1
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik
ALG1
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il
ALG9
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In
RFT1
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS
SLC4A11
CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA
ARX
CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED
L1CAM
CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY
HSD11B2
CRANIOFRONTONASAL SYNDROME
EFNB1
CREATINE DEFICIENCY SYNDROME, X-LINKED
SLC6A8
CRISPONI SYNDROME
CRLF1
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I
EFEMP2
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE II
ATP6V0A2
CYSTIC FIBROSIS
CFTR
CYSTINOSIS, ADULT NONNEPHROPATHIC
CTNS
CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
CTNS
CYSTINOSIS, NEPHROPATHIC
CTNS