General Genetic Tests

General genetics covers a wide range of presymptomatic types of testing, and is frequently used to detect genetic mutations that are associated with diseases that appear after birth, often later in life. By detecting these conditions, health management can be implemented for the patient to reduce debilitating effects.

 

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 Name Factor V Leiden, prothrombin G20210A mutation
Clinical Indication

For 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
Method PCR Genotyping
Turn Around Time 10 days
Medicare Eligibility 73308, 73311 - criteria apply
Sample Type Blood
Collection Type 10mL EDTA tube
Special Instructions None

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 Name

Haemochromatosis Genotype

Clinical Indication

  1. The investigation of repeatedly elevated transferrin saturation or ferritin levels, or
  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)

Method

PCR Genotyping

Turn Around Time

1 week

Medicare Eligibility

73317 – criteria apply

Sample Type

Blood

Collection Type

10mL EDTA tube

Special Instructions

None

 

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 Name MTHFR (Methyl Tetrahydrofolate Reductase) Genotype
Clinical Indication For the investigation of hyperhomocystinaemia
Gene(s) MTHFR
Method PCR Genotyping
Turn Around Time 2 weeks
Medicare Eligibility 73308 – criteria apply
Sample Type Blood
Collection Type 10mL EDTA tube
Special Instructions None

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

Test Name

HLA-B27

Clinical Indication

For the investigation of ankylosing spondylitis and certain other immune and autoimmune conditions such as reactive arthritis

Gene(s)

HLA-B27

Method

PCR Genotyping

Turn Around Time

1 week

Medicare Eligibility

73320

Sample Type

Blood

Collection Type

10mL EDTA tube

Special Instructions

None

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 Name Coeliac Disease Susceptibility – HLA-DQ2/DQ8 Genotype
Clinical Indication
  1. 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
Method Luminex Bead Assay
Turn Around Time 14 days
Medicare Eligibility 71151
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

Beta Thalassemia is a recessive haematological disorder caused by defects in the production of the beta globin chain of the haemoglobin molecule, caused by mutations in the HBB gene. The severity of the disease depends on variations involved and their presence on one (heterozygous) or both (homozygous) alleles. Other laboratory finding can include microcytic, hypochromic anaemia, and a raised HbA2 on haemoglobin electrophoresis.

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 Name

Fragile X

Clinical Indication

  1. 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

Method

PCR Fragment Sizing

Turn Around Time

2 weeks

Medicare Eligibility

73300 – criteria apply

Sample Type

Blood

Collection Type

10mL EDTA tube

Special Instructions

None

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 Name

Cystic Fibrosis

Clinical Indication

For the differential diagnosis of patients with suspected cystic fibrosis

For 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

Method

Allele-specific PCR fragment size analysis

Turn Around Time

2 weeks

Medicare Eligibility

73345 – criteria apply

73350 , 7334773346 – criteria apply

Sample Type

Blood

Collection Type

10mL EDTA tube

Special Instructions

Must be specialist referred to be MBS-eligible