Eurofins Biomnis code

MOHC3

Specialty

Cytogenetics

Clinical significance

Fanconi anemia (FA) is marked by cellular hypersensitivity to DNA bridging agents. This last characteristic allows the study of the mechanisms underlying the disease and is also used for clinical diagnosis. From a diagnostic point of view, the formal test is therefore the abnormal increase in the rate of spontaneous chromosomal breaks but above all, and specifically, on a very clear increase in these chromosomal breaks in the presence of alkylating agents (karyolysine, diepoxybutane (DEB) or mitomycin C (MMC)) and on the presence of pathognomonic images. The karyotype is performed on peripheral T lymphocytes with and without the addition of an alkylating agent in comparison with a control culture.

Preanalytics

• 5 mL :
• whole blood
•   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
Use the specific form B13 : Cytogenetic
Attach the clinical data
ALWAYS attach the last blood/platelet count results.

Specific equipment available

• S9L: Envelopes yellow for karyotypes LYON

Documents to download

• Specific Request Form(B13-INTGB)

Methodology

Chromosome fragility with mitomycine

Turnaround time

10 days