Medical Genetics Test Details
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Bloom Syndrome tests available.
Bloom's Syndrome
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Bloom Syndrome Ashkenazic Mutation Panel | ||
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Test Information: | Confirmation of Clinical Diagnosis | |
Test Details | ||
Test Code: | 6012 | |
Test Includes: |
blmAsh mutation c.2207_2212del6ins7 (p.Y735fs, also known as 2281del6ins7) | |
Special Notes: | ~98% detection rate in the Ashkenazi Jewish population | |
Technical Information | ||
Methodology: | Allele-specific genotyping by MALDI-TOFmass spectrometry | |
Gene Name: | BLM | |
Protein Name: | Bloom syndrome protein | |
Test Type: | Mutation Analysis |
Sample & Shipping Information | ||
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Test Requisition: | Molecular Diagnostics | |
Specimen Type: | Blood | |
Requirements: | Draw blood in an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children) and 3 cc (Infant<2yrs). | |
Shipping Conditions: | Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. |
Turn Around Time: | 21 days | |
Billing Information | ||
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List Price: | *For Insurance or Institutional Prices, please call. | |
CPT Codes: | 81209x1 |