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DiGeorge/Velo-Cardio-Facial Syndrome deletion 22q11.2 by FISH*

Test Code

F VCF*

Test Synonyms

del(22)(q11.2), deletion 22q11.2

Associations

DiGeorge syndrome

Methodology

Fluorescence in situ Hybridization (FISH)
*performed by affiliate laboratory

Turnaround Time

5-7 days

Specimen Requirements

5.0 mL (min. 3.0 mL) whole blood, sodium heparin

Specimen Stability
stable at 4-25°C for 72 hours
Storage & Handling

Protect from extreme temperature. Ship with cool pack (refrigerated). Ship on Saturday for Monday delivery only if sample is protected from extreme temperature.

Causes for Rejection

Clotted specimen; Specimen exposed to extreme temperature; Anticoagulant toxic to cells; Insufficient number of cells

Reference Range

See report

It is recommended that all FISH studies be done in conjunction with routine cytogenetic studies. If the FISH result is normal, a chromosome analysis allows identification of more complex abnormalities.

Description

DiGeorge syndrome is a rare congenital disease caused by a large deletion from chromosome 22, produced by an error in recombination at meiosis. This deletion indicates a loss of several genes from this region with the variation in symptoms relating to the amount of genetic material lost.

References
  1. Shprintzen RJ. et al. (2008). Velo-cardio-facial syndrome: 30 Years of study. Dev Disabil Res Rev.14(1):3-10.