Chromosomes, DEB Assay for Fanconi Anemia : 14598

Please submit completed Postnatal Clinical Information Form.  Contact med fusion Client Services for form.

CHRBS or 14598

Green (no gel) (sodium heparin) tube.  Collect Monday - Friday only for STAT delivery by 12 noon Monday - Friday only and NOT on a day before a Holiday.  Collect specimen as close to delivery time to lab as possible.  Contact Client Services to arrange stat delivery and inform Referrals Lab of arrival.
Clinical history and reason for referral are required with test order.

Transport 10 mL whole blood for adults. (Min: 2 mL) and for Infants 3 mL (Min: 2 mL)whole blood. Transport to lab ASAP and notify laboratory of delivery time, since the specimen must be received at the performing reference lab ASAP to ensure adequate culture of living cells.

Room temperature.

Specimen viability decreases during transit.  Transport ASAP.  This test requires a STAT pickup.

Monday - Friday

Varies

This analysis only evaluates the amount of breakage in the cells and will not identify any specific mutation in the DNA. This test will reliably detect affected individuals but is not an appropriate test for unaffected carriers of the disorder. This test does not rule out numeric or structural chromosomal abnormalities. Some individuals with characteristics suggestive of FA may have normal results in the DEB chromosome breakage test, therefore, a negative DEB study does not rule out FA in all cases. This test will not rule out the possibility of birth defects such as those caused by chromosome abnormalities, mutations in other genes important in development, and environmental or in-utero exposures.

Interpretive report.

This test is indicated to rule out Fanconi anemia, an inherited autosomal recessive disorder, characterized in the laboratory by chromosome breakage and drug hypersensitivities. Healthy individuals are able to repair DNA breaks, whereas patients with Fanconi anemia are impaired.