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.
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: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
Hotline History
N/A
CPT Codes

81209

Components
Component Test Code* Component Chart Name LOINC
0051435 Bloom Syndrome (BLM), Allele 1
0051436 Bloom Syndrome (BLM), Allele 2
0051437 Bloom Syndrome (BLM), Interpretation 46991-6
2001300 Bloom 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
Bloom Syndrome (BLM), 1 Variant