Casandra
Casandra Test Code QD40477Version 1 (DRAFT)
Performing Lab
Bloom Syndrome DNA Mutation Analysis
Clinical Use
Order TestUse
This molecular genetic test is designed to detect mutations in the BLM gene (associated with Bloom syndrome), allowing diagnosis in individuals suspected of having the disorder, particularly those of Ashkenazi Jewish origin. It is appropriate for diagnostic purposes and for carrier screening in that population.
Special Instructions
Not provided.
Limitations
Not provided.
Test Details
Methodology
NGS (Targeted)
Biomarkers
BLM
GeneSNV/Indel
Mutation • Categorical (e.g., Positive / Negative / Indeterminate)
LOINC Codes
Result Codes
- 32640-5 - BLM gene Mut Anl Bld/T
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Storage Instructions
Store and ship at room temperature immediately; do not freeze.
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