- Patient Preparation
- Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Characteristics: Pre-and postnatal growth deficiency, sparse subcutaneous tissue, sun-sensitive telangiectatic hypo-and hyperpigmented skin lesions, and chromosome instability causing benign and malignant tumors early in life.
Incidence: 1 in 40,000 in Ashkenazi Jewish individuals, unknown in other ethnicities.
Inheritance: Autosomal recessive.
Cause: PathogenicBLM gene mutations.
Mutation Tested: p.Y736Lfs (c.2207_2212delinsTAGATTC).
Clinical Sensitivity: 95 percent in Ashkenazi Jewish individuals.
Methodology: Multiplex polymerase chain reaction and Detection Primer Extension.
Analytical sensitivity and specificity: Greater than 99 percent.
Limitations: Mutations other than those tested will not be detected. Diagnostic errors can occur due to rare sequence variations.
See Compliance Statement C: www.aruplab.com/CS
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
|Component Test Code*||Component Chart Name||LOINC|
|0051435||Bloom Syn (BLM) 1 Mutation, Allele 1|
|0051436||Bloom Syn (BLM) 1 Mutation, Allele 2|
|0051437||Bloom Syn (BLM) 1 Mutation, Interp||46991-6|
|2001300||Bloom Syn (BLM) 1 Mutation, Specimen|
- BLM mutation testing