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Wolf-Hirschhorn Syndrome deletion 4p16.3 by FISH*

Test Code

F WH*

Test Synonyms

del(4)(p16.3)

Methodology

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

Turnaround Time

5-7 days

Specimen Requirements

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

Specimen Stability
Peripheral blood 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 or collection vessel toxic to cells; Insufficient number of cells; Specimen exposed to fixative

Reference Range

Presence or absence of the microdeletion

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

Wolf-Hirschhorn syndrome, causing deletion of the short arm of chromosome 4, affects approximately 1 in 50,000 births.

References
  1. Battaglia A. (2008). Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision. Am J Med Genet C Semin Med Genet. 15;148C(4):246-51.