Genetic Conditions tested at Virtus Diagnostics

Our Specialists Genetics Laboratories have developed as centres of excellence. Our technology and research is recognised globally with National and International expertise available to consult with our referring clinicians.

Virtus Diagnostics screens for over 590 inherited disease.

You can download a complete list of all Genetic Conditions tested at Virtus Diagnostics Pathology or search our directory

For further information phone 1800 837 284 or email your enquiry here.

Genetic Conditions

Search for a genetic condition by name or browse the categories below

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Disease

Code

Fur Further Information

ABCD SYNDROME

EDNRB

ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME

AAAS

ACHONDROGENESIS, TYPE 1B ACG1B

SLC26A2

ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF

ACADL

ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF

ACADM

ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF

ACADVL

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY - CLASSIC (SEVERE) FORM

CYP21A2

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY - SALT-WASTING FORM

CYP21A2

ADRENOLEUKODYSTROPHY

ABCD1

ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM

PEX1

ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM

PEX10

ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM

PEX13

ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM

PEX26

ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM

PEX5

AGAMMAGLOBULINEMIA, X-LINKED

BTK

AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY

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

SAMHD1

ALLAN-HERNDON-DUDLEY SYNDROME AHDS

SLC16A2

ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS

POLG

ALPHA THALASSEMIA

HBA1

ALPHA-METHYLACETOACETIC ACIDURIA

ACAT1

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME,NONDELETION TYPE, X-LINKED

ATRX

ALPORT SYNDROME, AUTOSOMAL RECESSIVE

COL4A3

ALPORT SYNDROME, AUTOSOMAL RECESSIVE

COL4A4

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, GENERALISED, OF INFANCY

ENPP1

ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS, 1

VPS33B

ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS, 2

VIPAR

ARTS SYNDROME

PRPS1

ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2

NLGN4

ASPHYXIATING THORACIC DYSTROPHY 2

IFT80

ASPHYXIATING THORACIC DYSTROPHY 3

DYNC2H1

ATAXIA TELANGIECTASIA

ATM

ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA

APTX

ATELOSTEOGENESIS, TYPE 2

SLC26A2

ATYPICAL MYCOBACTERIOSIS, FAMILIAL

STAT1

ATYPICAL MYCOBACTERIOSIS, FAMILIAL

TYK2

ATYPICAL MYCOBACTERIOSIS, FAMILIAL, 27A

IFNGR1

ATYPICAL MYCOBACTERIOSIS, FAMILIAL, 28

IFNGR2

ATYPICAL MYCOBACTERIOSIS, FAMILIAL, 29

IL12B

ATYPICAL MYCOBACTERIOSIS, FAMILIAL, 33

IKBKG

ATYPICAL MYCOBACTERIOSIS, FAMILIAL,30

IL12RB1

AUTOIMMUNE POLYENDOCRINE SYNDROME TYPE 1

AIRE