Bloom Syndrome (BLM) 1 Mutation
0051433
Ordering Recommendation
Diagnostic testing for Bloom syndrome.  Carrier screening for Bloom syndrome.
Mnemonic
BLM
Methodology
Polymerase Chain Reaction/Primer Extension
Performed
Tue, Thu
Reported
7-10 days  
New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
  
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).  
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL)  
Storage/Transport Temperature
Refrigerated.  
Unacceptable Conditions
  
Remarks
  
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
By report  
Interpretive Data
Background information:
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
Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test; however, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
 
Note
 
CPT Code(s)
81209
Components
Component Test Code*Component Chart Name
0051435Bloom Syn (BLM) 1 Mutation, Allele 1
0051436Bloom Syn (BLM) 1 Mutation, Allele 2
0051437Bloom Syn (BLM) 1 Mutation, Interp
2001300Bloom Syn (BLM) 1 Mutation, Specimen
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Aliases
  • BLM mutation testing