Hereditary Haemochromatosis: HFE Genotyping

Diagnostic Use

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.

Department

Genetics - Molecular Pathology

Delphic Registration Code

HH

Synonyms

Haemochromatosis
Hemochromatosis
HFE
HH

Turnaround Time

4 weeks

Test Code

3174

Specimen Type

• Whole Blood

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

4.0

No of Samples Required

1

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

1.0

Minimum Sample Volume (ml)

0.5

Additional Specimen 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).

Aliquot Instructions

Sample Type

• Whole Blood

Transport to Lab

Ambient (8 - 24 degrees Celsius)

Additional Referral/Aliquot Information

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).

Interpretation

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

Reference Intervals

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).

Test 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).

Non-Funded Test Cost

$106.67 (Exclusive of GST)

Billing Code

3174

Contact Information

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