Virtus Genetics
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Genes & Diseases - What we test for

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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 LOCOMOTION
VLDLR
CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA
SNAP29
CEREBROOCULOFACIOSKELETAL SYNDROME 1
ERCC6
CEREBROTENDINOUS XANTHOMATOSIS
CYP27A1
CEROID LIPOFUSCINOSIS, NEURONAL, 10
CTSD
CEROID LIPOFUSCINOSIS, NEURONAL, 3
CLN3
CEROID LIPOFUSCINOSIS, NEURONAL, 5
CLN5
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 1
ATP8B1
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2
ABCB11
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3
ABCB4
CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE
ARSE
CHONDRODYSPLASIA, BLOMSTRAND TYPE
PTH1R
CITRULLINEMIA, CLASSIC
ASS1
COCKAYNE SYNDROME TYPE B
ERCC6
COCKAYNE SYNDROME, TYPE A
ERCC8
COENZYME Q10 DEFICIENCY
APTX
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
NDUFA1
Complex IV deficiency
COX10
CONGENITAL ADRENAL HYPERPLASIA
CYP11B1
CONGENITAL ADRENAL HYPERPLASIA, LIPOID
CYP11A1
CONGENITAL ADRENAL HYPOPLASIA
NR0B1
CONGENITAL DEAFNESS WITH KERATOPACHYDERMIA & CONSTRICTIONS OF FINGERS AND TOES
GJB2
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A
PMM2
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1C
ALG6
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G
ALG12
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1I
ALG2
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1M
DOLK
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2d
B4GALT1
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2G
COG1
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2H
COG8
CONGENITAL DISORDER OF GLYCOSYLATION TYPE2B
MOGS
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1B
MPI
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1D
ALG3
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1E
DPM1
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1F
MPDU1
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1H
ALG8
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1J
DPAGT1
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1K
ALG1
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1L
ALG9
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1N
RFT1
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1Q
SRD5A3
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2C
SLC35C1
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2E
COG7
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2F
SLC35A1
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE2A
MGAT2
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 1A
FBLN5
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE 2
ATP6V0A2
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I
EFEMP2
CYSTIC FIBROSIS
CFTR
CYSTINOSIS, ADULT NONNEPHROPATHIC
CTNS
CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
CTNS
CYSTINOSIS, NEPHROPATHIC
CTNS
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