| Bloom's syndrome is a rare autosomal recessive disease characterized by growth deficiency, unusual facies, immunodeficiency, male sterility/female subfertility and an increased risk of a broad spectrum of cancers that develop at a young age. Bloom's Syndrome is caused by inactivating mutations in both copies of the BLM gene, which is located on chromosome 15 at 15q26.1. One particular BLM gene mutation, corresponding to a 6-bp deletion and a 7-bp insertion at nucleotide position 2281, known as the BLM Ash mutation, is the common mutation in Bloom's Syndrome patients of Ashkenazi Jewish ancestry. BLM encodes the Bloom's syndrome protein, a DNA helicase of the highly conserved RecQ subfamily of helicases, a group of nuclear proteins important in the maintenance of genomic stability. Sequence analysis of the entire BLM gene associated with Bloom's Syndrome is available on a clinical basis at the Medical Genetics Laboratories at Baylor College of Medicine. Reasons For Referral:
Testing Methodology:PCR amplification of the exons contained in the BLM gene coding region will be performed on patient genomic DNA. Direct sequencing of amplification products is performed in both the forward and reverse directions using automated fluorescence dideoxy sequencing methods. Sensitivity:98% detection for Ashkenazi Jewish Bloom's syndrome patients Specimen Requirements:Require 14 mls of blood in EDTA tube. Consent form must accompany specimen. Turnaround Time:4 weeks CPT Codes and Prices:Index: 83891, 83898x29, 83894, 83904x58, 83909x58, 83912 Shipping InformationForms: >> Gene Sequencing
Requisition or DNA Requisition Test Codes:Index: 6535 |