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Bloom Syndrome (BLM), 1 Variant
0051433
Ordering Recommendation

Carrier screening or diagnostic testing for Bloom syndrome for individuals of Ashkenazi Jewish descent.

Mnemonic
BLM
Methodology
Polymerase Chain Reaction/Fluorescence Monitoring
Performed
Tue, Fri
Reported
5-10 days
New York DOH Approval Status
This test is New York DOH approved.
Submit With Order
ARUP Consult®
Disease Topics
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
Plasma or serum. Specimens collected in sodium heparin or lithium heparin tubes. 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: 1 month 
Reference Interval
By report
Interpretive Data
Background information for Bloom Syndrome (BLM), 1 Variant:
Characteristics:
Bloom syndrome is characterized by pre-and postnatal growth deficiency, sparse subcutaneous tissue, sun-sensitive telangiectatic hypo-and hyperpigmented skin lesions, chromosome instability causing benign and malignant tumors early in life, and male sterility.
Incidence:
1 in 40,000 in Ashkenazi Jewish individuals.
Inheritance:
Autosomal recessive.
Cause:
BLM pathogenic variants.
Variant Tested:
p.Y736Lfs (c.2207_2212delinsTAGATTC).
Clinical Sensitivity:
97 percent in Ashkenazi Jewish individuals, approximately 3 percent in other ethnicities.
Methodology:
Polymerase chain reaction (PCR) and fluorescence monitoring.
Analytical sensitivity and specificity:
Greater than 99 percent.
Limitations:
Variants other than c.2207_2212delinsTAGATTC will not be detected. Diagnostic errors can occur due to rare sequence variations.

Compliance 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 NameLOINC
0051435Bloom Syndrome (BLM), Allele 1
0051436Bloom Syndrome (BLM), Allele 2
0051437Bloom Syndrome (BLM), Interpretation46991-6
2001300Bloom Syndrome (BLM), 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, please click the sidebar link to access the Interface Map.
Aliases
  • BLM mutation testing