Ordering Recommendation

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

New York DOH Approval Status

This test is New York state 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. Frozen specimens in glass collection tubes.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: 1 month

Methodology

Polymerase Chain Reaction (PCR), Fluorescence Monitoring

Performed

Varies

Reported

5-10 days

Reference Interval

By report

Interpretive Data

Refer to report.

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

Compliance Category

Laboratory Developed Test (LDT)

Note

Hotline History

N/A

CPT Codes

81209

Components

Component Test Code* Component Chart Name LOINC
0051435 Bloom Syndrome (BLM), Allele 1 32640-5
0051436 Bloom Syndrome (BLM), Allele 2 32640-5
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