Medical Genetics Test Details

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The American Medical Association (AMA) Current Procedural Terminology (CPT) codes and Healthcare Common Procedure Coding System (HCPCS) codes listed, are provided for informational purposes only. The codes reflect our interpretation of CPT/HCPCS coding requirements based upon AMA guidelines published annually. CPT/HCPCS codes are provided only as guidance to assist clients with billing. Baylor Genetics strongly recommends that clients confirm CPT/HCPCS codes with their Medicare Administrative Contractor (MAC) or other payer being billed, as requirements may differ. CPT coding is the sole responsibility of the billing party. Baylor Genetics assumes no responsibility for billing errors due to reliance on the CPT codes listed. Please direct any questions regarding CPT coding to the payer being billed.
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. BLM Prenatal Sequence Analysis (GeneAware) Test Code: 60202 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.

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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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