Bloom Syndrome (BLM), 1 Variant
Also known as: BLM
Use
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. It is an autosomal recessive disorder primarily affecting individuals of Ashkenazi Jewish descent. Carrier screening or diagnostic testing is recommended for Bloom syndrome for individuals of Ashkenazi Jewish descent. The test identifies carriers of the p.Y736Lfs (c.2207_2212delinsTAGATTC) pathogenic variant in the BLM gene.
Special Instructions
Counseling and informed consent are recommended for genetic testing, particularly for New York clients where informed consent is required with submission. Consent forms are available online.
Limitations
The test detects only the p.Y736Lfs (c.2207_2212delinsTAGATTC) pathogenic variant in the BLM gene. Variants other than c.2207_2212delinsTAGATTC will not be detected. Diagnostic errors can occur due to rare sequence variations. The clinical sensitivity is 97% in Ashkenazi Jewish individuals and approximately 3% in other ethnicities. Analytical sensitivity and specificity are greater than 99%.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
LOINC Codes
- 32640-5
- 46991-6
- 32640-5
- 46991-6
Result Turnaround Time
5-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B)
Storage Instructions
Refrigerated transport preferred.
Causes for Rejection
Unacceptable conditions include specimens collected in sodium heparin or lithium heparin tubes, and frozen specimens in glass collection tubes.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 3 days |
| Refrigerated | 1 week |
| Frozen | 1 month |