Cystic fibrosis - CFTR gene - detection of 51 mutations

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Eurofins Biomnis code

MUCO

Synonyms
  • OMIM code : *602421/#219700
  • [To be translated]
Specialty

Genetics


Preanalytics
  • 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
Enclose the specific clinical information form (R23-INTGB : Cystic fibrosis gene analysis (CFTR gene))
Sample must be refrigerated if transport is > 48 hours
Enclose the specific B12-INTGB request form: Molecular Genetics
This test can be performed for reasons such as medically assisted procreation, family history, or clinical suspicion.
Preconception screening and prenuptial screening are not authorized in France, any request received for this reason will be cancelled.


Methodology

Elucigen method CF EU2V1 or sequencing

Turnaround time

10 days


Testing Laboratory

Biomnis Lyon