Eurofins Biomnis code

S65C

Synonyms

• c.193A>T mutation
• Haemochromatosis
• OMIM code : *613609 / #235200
• S65C mutation

Specialty

Genetics

Clinical significance

Haemochromatosis type I associated with HFE gene is a congenital iron overload disease due to homozygosity for the p.Cys282Tyr (p.Cys282Tyr/p.Cys282Tyr) mutation. The role of the p.Ser65Cys mutation in the occurrence of an HFE iron overload not associated with p.Cys282Tyr homozygosity is still the subject of debate and has not been clearly demonstrated. For this reason, the p.Ser65Cys mutation must be interpreted with care. This interpretation requires preliminary screening for p.Cys282Tyr mutations. The homozygosity for the pSer65Cys mutation is not associated with a full phenotypic haemochromatosis profile but is inconsistently associated with an increase in the transferrin saturation coefficient.

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

Real-time PCR

Turnaround time

9 days