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Houston, Texas

Genetic Laboratory

Medical Genetics Laboratories

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.

OMIM

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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.

Billing Information
Turn Around Time:	21 days
List Price:	*For Insurance or Institutional Prices, please call.
CPT Codes:	81209x1

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