The Kleberg Cytogenetics Laboratory offers a fluorescence in situ hybridization (FISH)-based assay for identifying the deletion on 1p associated with the 1p36 deletion syndrome. Clinical Features:Individuals with deletion 1p36 typically have developmental delay, hypotonia, seizures, growth delay and dysmorphic facial features. Congenital heart defects and hearing loss are also seen in many of these individuals. Monosomy 1p36 is thought to be the most common terminal deletion syndrome. Reasons for Referral:Patients with clinical features suggestive of monosomy 1p36 may be tested for a deletion of 1p36 by FISH simultaneously with high-resolution chromosomal analysis (if not previously performed). Prenatal diagnosis may be performed if an affected family member has been studied in our laboratory and has been shown to have a deletion detectable by FISH. Please call regarding all prenatal samples. Testing Methodology:FISH is the application of fluorescently labeled DNA molecules to metaphase chromosomes and interphase nuclei for the detection of chromosome abnormalities and alterations. It is a rapid, reliable and direct approach for identifying patients with microdeletions or microduplications. FISH analysis for monosomy 1p36 is performed on metaphase chromosomes. The presence of one hybridization signal indicates a deletion. Specimen Requirements:Whole blood in sodium heparin (green-top)
tubes: Shipping and Handling:All tubes must be labeled with the patient's testname and date of birth, and a completed requisition form must accompany each sample. If the laboratory is billing the patient's insurance, please enclose a copy of the insurance card. Ship specimens for overnight delivery at ambient temperature. Please notify the laboratory of incoming samples. Turnaround Time:7-10 days CPT Codes and Prices:88230, 88271, 88273, 88291 References:1. Heilstedt, et al. (2003) Am. J. Hum Genet. 72: 1200-1212. Forms: >> Cytogenetics Requisition Test Code:8456 |