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Genetic Labs

Houston, Texas

Genetic Laboratory
Medical Genetics Laboratories
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Medical Genetics Test Details

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Bloom Syndrome tests available.

Bloom's Syndrome

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Mutation Analysis Bloom Syndrome Ashkenazic Mutation Panel
Test Code: 6012
Bloom Syndrome Ashkenazic Mutation Panel
Test Code: 6012
Bloom Syndrome Ashkenazic Mutation Panel
Test Code: 6012
Sequence Analysis BLM Sequence Analysis
Test Code: 6535
BLM Sequence Analysis
Test Code: 6536

This test can only be performed if there is a previously identified familial mutation.
BLM Sequence Analysis
Test Code: 6537

We require that the referring center consult with our laboratory genetic counselors regarding prenatal cases prior to submitting any samples. Please call 1-800-411-4363.


Bloom Syndrome Ashkenazic Mutation Panel
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
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
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81209x1


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