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Bloom Syndrome
BLM (RECQL3; RECQ Protein-Like 3) Gene
Bloom syndrome (BS) is a rare autosomal recessive disorder characterized by severe prenatal and postnatal growth deficiency, sunsensitive facial erythema and an increased risk of multiple cancers. The cancer sites and types include those that are both common and rare in the general population. Other common findings in individuals with Bloom syndrome include learning disabilities, immunodeficiency, chronic pulmonary disease and reduced fertility. Although rare, this disorder is more common in the Ashkenazi Jewish population. According to a study of individuals with BS from the Bloom Syndrome Registry, 93% of affected individuals were identified to have mutations in the BLM gene. Both mutations were identified in approximately 87% of the patients. Most mutations, identified to date, are small deletions/insertions and nonsense mutations that lead to premature protein truncation. However, missense and splice site mutations and large deletions have also been reported.
Using genomic DNA from the submitted blood sample (1-5 mL in EDTA), GeneDx offers bi-directional sequence analysis of the coding regions and splice sites of the BLM gene (exons 2-22). If sequencing identifies a mutation on only one allele, reflex targeted array CGH analysis with exon-level resolution (ExonArrayDx) is performed to evaluate for a deletion or duplication of one or more exons of the BLM gene. Mutation-specific testing of relatives and prenatal diagnosis in at-risk pregnancies is available once a mutation/deletion in a family has been defined.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
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