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:
Pathogenic BLM 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.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS
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
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, contact interface support at interface.support@aruplab.com.
Cross References