FISH ANALYSIS, WOLF-HIRSCHHORN SYNDROME
Chromosomal Locus: 4p16.3
Pseudonyms: 4p16.3 Deletion, Monosomy 4p, Pitt-Rogers-Danks Syndrome
TURNAROUND TIME: 7 to 10 days
TESTING METHODOLOGY: Fluorescence in situ hybridization
- Collect: 3-5 mL peripheral blood in sodium heparin (green) for children and adults; 1-2 mL peripheral blood in sodium heparin (green) for newborns
- Min. Collection: 1 mL for newborns; 2 mL for children and adults
- Transport: peripheral blood in sodium heparin (green) at 20-25°C
- Stability: Ambient: 24 hours; Refrigerated: 72 hours; Frozen: unacceptable
- Unacceptable Conditions: Frozen or clotted specimens; specimens in anticoagulants other than sodium heparin
A Cytogenetics Laboratory Test Requisition must accompany the specimen. Contact the Cytogenetics Laboratory at 918-502-1722 to obtain further information.
Test Summary: Test can detect microdeletions of the Wolf-Hirschhorn syndrome critical region in 4p16.3. More than 95% of patients with the Wolf-Hirschhorn syndrome have a deletion detectable by FISH.
Methods: A dual-color FISH analysis performed on metaphase cells using a probe for the Wolf-Hirschhorn syndrome critical region in 4p16.3 and a chromosome 4 control probe; analysis of 10 metaphase cells and 20 interphase cells
Indications for Use:
- Patients suspected of having Wolf-Hirschhorn syndrome on the basis of clinical findings such as the distinctive "Greek warrior helmet" facial appearance, microcephaly, pre- and post-natal growth deficiency, hypotonia, seizures, developmental delay.