Eurofins Biomnis code

H63D

Synonyms

• c.187C>G mutation
• Haemochromatosis
• H63D mutation

Specialty

Genetics

Clinical significance

Hereditary hemochromatosis is an autosomal recessive disease cause by deficient iron metabolism. In middle age (at between 40 and 50 years of age), untreated patients suffer serious complications including cirrhosis, diabetes, arthropathy, heart disease, bronze pigmentation of the skin, loss of pituitary function and liver cancer. If the disease is diagnosed at an early stage, its worst consequences can be avoided by periodic therapeutic phlebotomy. Genetic diagnosis is based on looking for mutations C282Y and H63D in the HFE gene on chromosome 6. Only homozygosity for the C282Y mutation establishes a definite diagnosis with the current state of understanding. If an individual is diagnosed with this mutation, it should be explained why other members of the family should be tested.

Preanalytics

• 5 mL :
• Whole blood EDTA (only), do not use tubes containing beads.
•   Ambient temperature

• A tube specifically for this analysis : No

Further information

According to regulation, each request must ALWAYS be accompanied by a consent form signed by the patient and the prescribing pathologist
Sample must be refrigerated if transport is > 48 hours
Enclose the specific B12-INTGB request form: Molecular Genetics

Documents to download

• Specific Request Form (B12-INTGB)
• Attestation-Consent(D43-INTGB)

Methodology

LAMP PCR

Turnaround time

4 days