Eurofins Biomnis code

CSG

Specialty

Cytogenetics

Clinical significance

Post-natal chromosome analysis involves counting, identifying and studying the morphological characteristics of the subject's chromosomes. It is indicated in: - newborns of low birth weight, or with hypotonia, ambiguous genitalia or multiple congenital abnormalities; - children with developmental delay (physical or psychomotor); - adults, either in the investigation of infertility or recurrent miscarriage, or if there is a family history of chromosomal abnormalities. If any abnormality is detected in the routine examination, special techniques will be used including special staining and the techniques of molecular cytogenetics (e.g. fluorescent in situ hybridization, NORS, C-banding, etc.).

Preanalytics

• 5 mL ((2 mL nouveau né)) :
• Whole blood sodium heparin, lithium heparin,
•   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
Stability 4 days room temperature
.

Documents to download

• Specific Request Form (B13-INTGB)

Methodology

Conventional cytogenetics: Culture + chromosome analysis

Turnaround time

2 weeks (2 - 5 days for urgent samples)