Wolf-Hirschhorn Syndrome

Indications For Wolf-Hirschhorn Syndrome
Individuals with Wolf-Hirschhorn syndrome are characterized by microcephaly, growth deficiency, mental retardation and characteristic facial features.

Collection Procedure

  • Peripheral blood 5-15 ml. Collect whole blood in a green top tube (sodium heparin). Label tube with patient’s name and date of birth.

A completed test requisition form must be included with every sample. A transport kit is available upon request.

Specimen Requirements
FISH analysis is performed following cytogenetic analysis

Transport Temperature
Room temperature (DO NOT refrigerate, freeze or centrifuge)

A completed test requisition form must be included with every sample. A transport kit is available upon request.

Methodology
Laboratory testing for Wolf-Hirschhorn Syndrome is performed on metaphase chromosomes utilizing Fluorescence in situ hybridization targeting chromosome 4.

Causes for Rejection
Frozen specimen, inappropriate container

Turnaround Time
24-48 hrs after completion of cytogenetic analysis