Indications For Wolf-Hirschhorn Syndrome
Individuals with Wolf-Hirschhorn syndrome are characterized by microcephaly, growth deficiency, mental retardation and characteristic facial features.
Collection Procedure
- Amniotic fluid 15-20 ml. Discard the first 2 ml of fluid to reduce the risk of maternal cell contamination. Aseptically transfer the specimen into sterile plastic conical tubes labeled with patient’s name and date of birth.
- CVS 10-1-20 mg. Aseptically transfer the specimen into sterile plastic conical tubes containing sterile transport medium. 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