Genomic diagnostics provides a comprehensive range of tests for commonly encountered inherited conditions such as coeliac disease, haemochromatosis, thalassaemia and others.

Tests for inherited disorders are used to detect familial genetic variations that are associated with conditions which may manifest in childhood or in adult life. Some conditions are common and seen frequently in general practice, and others may be rarer, with management or diagnosis requiring specialist input. The genetic basis of many conditions is increasingly known, and with this, a growing number of genetic tests are available in their investigation.
If you cannot find information about a test you are interested in on our website, please contact us and we are happy to advise on test appropriateness, availability, and costs.

Almost all patients affected by coeliac disease have specific variants of the Human Leukocyte Antigens DQ2 and DQ8.These variants have a strong negative predictive value for diagnosis.

Test NameCoeliac Disease Susceptibility – HLA-DQ2/DQ8 Genotype
Clinical Indication1. In the investigation of suspected gluten intolerance/coeliac disease or,
2. For risk assessment of a relative of a person with a known coeliac risk genotype
Gene(s)HLA-DQ2 & HLA-DQ8
MethodLuminex Bead Assay
Turn around time14 days
Medicare Eligibility71151
Sample TypeBlood
Collection Type10mL EDTA tube
Special InstructionsNone

Factor V is a protein involved in coagulation. A common variant in the Factor V gene have been implicated in an increased risk of thrombosis.

Test NameFactor V Leiden, prothrombin G20210A mutation
Clinical IndicationFor the investigation of:
1.Proven venous thrombosis or pulmonary embolism, or (73308)
2. In a first degree relatives of a patient with a known mutation (73311)
Gene(s)F5
MethodPCR Genotyping
Turn around time10 days
Medicare Eligibility73308, 73311 – criteria apply
Sample TypeBlood
Collection Type10mL EDTA tube
Special InstructionsNone

Hereditary haemochromatosis is a common inherited disorder in which excessive iron is absorbed. Genetic predisposition leads to disease in some but not all cases.

Test NameHaemochromatosis Genotype
Clinical Indication

1. The investigation of repeatedly elevated transferrin saturation or ferritin levels,
2. The differential diagnosis of a patient with symptoms suggestive of hereditary haemochromatosis, in whom persistent elevation of plasma iron has been proven, or
3. Hereditary Haemochromatosis risk assessment of a first degree relative of a person with a known HFE gene mutation

Gene(s)HFE (C282Y, H63D and S65C variants only)
MethodPCR Genotyping
Turn around time1 week
Medicare Eligibility73317 – criteria apply
Sample TypeBlood
Collection Type10mL EDTA tube
Special InstructionsNone

The MTHFR gene produces the enzyme methylenetetrahydrofolate reductase (MTHFR). Studies have reported associations of MTHFR polymorphisms with many conditions including autism, schizophrenia, coronary artery disease, foetal neural tube defects, poor pregnancy outcomes and colorectal cancer.

Test NameMTHFR (Methyl Tetrahydrofolate Reductase) Genotype
Clinical IndicationFor the investigation of hyperhomocystinaemia
Gene(s)MTHFR
MethodPCR Genotyping
Turn around time2 weeks
Medicare Eligibility73308 – criteria apply
Sample TypeBlood
Collection Type10mL EDTA tube
Special InstructionsNone

HLA-B27 is an MHC class I molecule that is associated with a variety of inflammatory conditions.

Test NameHLA-B27
Clinical IndicationFor the investigation of ankylosing spondylitis and certain other immune and autoimmune conditions such as reactive arthritis
Gene(s)HLA-B27
MethodPCR Genotyping
Turn around time1 week
Medicare Eligibility73320
Sample TypeBlood
Collection Type10mL EDTA tube
Special InstructionsNone
Alpha-1-antitrypsin (A1AT) is a protein involved in the regulation of the enzyme elastase, which breaks down proteins so they can be removed and recycled in the body. Where there is an A1AT deficiency, elastase activity is not regulated and it beings to break down and damage lung tissue. If the A1AT that is produced does not work properly, it accumulates in liver cells and forms abnormal proteins which being to destroy liver cells. A1AT is produced by the Pi gene, and the amount and function will depend on the alleles inherited, with M, S and Z being the most common types.
Test Name Alpha-1 Antitrypsin
Clinical Indication
  1. To aid in the diagnosis of the cause of early onset emphysema and/or liver dysfunction
  2. To establish the risk of emphysema and/or liver disease due to alpha-1 antitrypsin deficiency
  3. To determine the likelihood that children might inherit the risk in parents known to carry an at-risk genotype
Gene(s) SERPINA1
Method PCR Genotyping
Turn around time 28 days
Medicare Eligibility No
Sample Type Blood
Collection Type 10mL EDTA tube
Special Instructions None

The ApoE gene codes for the protein apoliprotein E. This protein has been implicated in a range of disorders related to lipid metabolism.

Test Name ApoE Genotyping
Clinical Indication 1. To determine atherosclerosis risk (e4/e4 or e4/e3)
2. To confirm a diagnosis of confirm a diagnosis of type III hyperlipoproteinemia (e2/e2)
Gene(s) ApoE (Apolipoprotein E)
Method PCR Genotyping
Turn around time 28 days
Medicare Eligibility No
Sample Type Blood
Collection Type 10mL EDTA tube
Special Instructions None

Alpha-thalassaemia is a recessive haematological disorder characterised by defects in the production of alpha globin chain of the haemoglobin molecule that decrease normal haemoglobin production with resulting microcytic hypochromic anaemia. The disease typically results from deletions involving the HBA1 and HBA2 genes, though other less frequent mutations can also cause the disorder.

Test Name Alpha Thalassemia
Clinical Indication To identify the underlying genetic cause in patients with haematological and laboratory evidence of thalassaemia, for diagnostic and reproductive planning purposes.
Gene(s) HBA1 and HBA2 for detection of -alpha^3.7, -alpha^4.2, –SEA, –FIL, –THAI, -alpha^20.5 and –MED deletion variants
Method Gap PCR and gel electrophoresis
Turn around time 3 – 4 weeks
Medicare Eligibility No
Sample Type Blood
Collection Type 6mL EDTA tube
Special Instructions Prior haematological evidence of thalassaemia (e.g. FBC and film including HBH, iron studies, Hb EPG) must be available prior to testing

Alpha-thalassaemia is a recessive haematological disorder characterised by defects in the production of alpha globin chain of the haemoglobin molecule that decrease normal haemoglobin production with resulting microcytic hypochromic anaemia. The disease typically results from deletions involving the HBA1 and HBA2 genes, though other less frequent mutations can also cause the disorder.

Test Name Beta Thalassemia
Clinical Indication To identify the underlying genetic cause in patients with haematological and laboratory evidence of thalassaemia, for diagnostic and reproductive planning purposes.
Gene(s) HBB for sequence variants and 619bp deletion variant
Method GAP PCR and Sanger sequencing
Turn around time 2 – 4 weeks
Medicare Eligibility No
Sample Type Blood
Collection Type 10mL EDTA tube
Special Instructions Prior haematological evidence of thalassaemia (e.g. FBC and film, iron studies, Hb EPG) must be available prior to testing

Caused by inherited mutations in the FMR1 gene, Fragile X syndrome is the most common cause of familial intellectual disability. This is an X-linked disorder with a complex clinical phenotype.

Test NameFragile X
Clinical Indication1. For the investigation of intellectual disability, developmental delay, autism, late-onset ataxia, neurodegeneration or premature ovarian failure.
2. Risk assessment of a relative of a person with an FMR1 mutation
Gene(s)FMR1
MethodPCR Fragment Sizing
Turn around time2 weeks
Medicare Eligibility73300 – criteria apply
Sample TypeBlood
Collection Type10mL EDTA tube
Special InstructionsNone

Caused by inherited variations in the CFTR gene, depending on their number and type, a variety of clinical outcomes can be observed. These vary from being unaffected to severe lung and pancreatic disorders (CF) or milder effects such as male infertility, bronchiectasis or pancreatitis. This test is included in the Genetic Carrier Screen panel.

Test NameCystic Fibrosis
Clinical IndicationFor the differential diagnosis of patients with suspected cystic fibrosisFor the testing of a pregnant patient and/or their partner in order to make or exclude a diagnosis of cystic fibrosis in the fetus.
Gene(s)CFTR
MethodAllele-specific PCR fragment size analysis
Turn Around Time2 weeks
Medicare Eligibility73345 – criteria apply73350 , 73347, 73346 – criteria apply
Sample TypeBlood
Collection Type10mL EDTA tube
Special InstructionsMust be specialist referred to be MBS-eligible

Gilbert’s Syndrome is characterised by jaundice due to increased levels of unconjugated plasma bilirubin. Men are at higher risk than females and usually present post-puberty. In people of northern European ancestry, cases of Gilbert Syndrome are often associated with inheriting two copies (one from each parent) of a specific mutation in the promoter region of the gene encoding the enzyme glucuronyltransferase (UGT1A1), designated UGT1A1*28 allele. UGT1A1 is a liver enzyme important for clearing conjugated bilirubin from the circulation. In general, other than the low grade elevated bilirubin levels, people with Gilbert Syndrome exhibit no other signs or symptoms.

Testing for Gilbert Syndrome may assist in differentiating the cause of isolated elevated bilirubin levels in those patients with normal test results for FBC, reticulocytes, haptoglobin and liver enzymes.

Test NameGilbert’s Syndrome Genotyping
Clinical Indication1. For the investigation of hyperbilirubinaemia (jaundice)
2. To determine greater susceptibility to irinotecan induced gastrointestinal and bone marrow toxicity
Gene(s)UGT1A1 (UDP-glucuronosyltransferase Family 1 Member A1)
MethodPCR Genotyping
Turn around time28 days
Medicare EligibilityNo
Sample TypeBlood
Collection Type10mL EDTA tube
Special InstructionsNone

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