Bloom Syndrome DNA Mutation Analysis
Use
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
For fetal specimens, provider must call 1‑866‑GENE‑INFO (1‑866‑436‑3463) prior to submission, and documentation of parental carrier status must be provided. Physician attestation of informed consent is required if ordering facility is located in certain states or if test is performed in Massachusetts. Do not hold the specimen; forward to laboratory when specimen arrives.
Limitations
Not provided.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 32640-5
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Storage Instructions
Store and ship at room temperature immediately; do not freeze.