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Test Identifier Information

 
Registration CodeHH
Method

PCR using sequence-specific FRET hybridisation probes (hyb-probes) to detect c.187C>G (p.His63Asp: H63D) and c.845G>A (c.Cys282Tyr: C282Y). 

Diagnostic Use / Indications

The clinical features of haemochromatosis include cirrhosis of the liver, diabetes, hypermelanotic pigmentation of the skin, and heart failure. At least five iron-overload disorders labelled haemochromatosis have been identified on the basis of clinical, biochemical, and genetic characteristics. Classic hereditary haemochromatosis (HFE) is an autosomal recessive disorder and is most often caused by single amino acid missense mutations in a gene designated HFE on chromosome 6p21.3. The most commonly described mutations in patients with HFE are H63D (c.187C>G) and C282Y (c.845G>A).

Indications for testing are elevated transferrin-iron saturation and/or persistently elevated serum ferritin concentration.

External Price$98.10(Exclusive of GST)
  

Specimen Collection

 
Patient Specimen4.0mL EDTA,
Paediatric Specimen0.5 mL - 1 mL EDTA blood
Sample Delivery to LabAmbient
  

CHLabs Laboratory

 
DepartmentBiochemistry - Molecular Pathology
Contact Details Email Email
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Contact Phone Number03 3640 548
Test Availability9am to 5pm, Monday to Friday
Turnaround TimeWithin 4 weeks
Reference Interval

The assay will detect c.187C>G (p.His63Asp: H63D) and c.845G>A (c.Cys282Tyr: C282Y). For each of these loci, the result will indicate whether the sample is homozygous for the normal allele (0), homozygous for the mutant allele (2), or heterozygous (1).

Interpretation

Individuals homozygous for the C282Y mutation or compound heterozygous for C262Y and H63D are genetically predisposed to develop haemochromatosis.

Additional Information

This genetic test needs nucleated cells. Please don’t centrifuge or freeze the EDTA blood tube.

If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).

Delphic Number Test Number3174

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