1p36 deletion syndrome

Chromosome 1p36 deletion syndrome is a congenital genetic disorder that affects approximately 1 in 5,000 to 1 in 10,000 children born. Chromosome 1p36 deletion syndrome can also be called "monosomy 1p36". People normally have two copies of this chromosome. Chromosome 1 is the largest human chromosome and represents about 8 percent of the total DNA in cells. The "p" stands for the short arm of the chromosome or the 'petite' arm. '36' is the location of the deletion on chromosome 1. There is no definite answer to what problems a child with 1p36 deletion syndrome will have. However it has been found that the majority of children with 1p36 deletion syndrome have problems with developmental delay. The range of how delayed the child can vary from severly delayed to just mildly delayed.

Methodology: Fluorescent in Situ Hybridization (FISH) Analysis

Purpose: Confirmation of Clinical Diagnosis

ICD-9 Code: 758.5

Test Requisition: Cytogenetics Requisition

CPT Codes: 88230, 88271, 88274, 88291 Cost: $655.00

Turn-around-time: 7-10 days