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.
FMR1 - Related Disorders tests available.

Fragile X-Associated Tremor/Ataxia Syndrome | FMR1-Related Premature Ovarian Insufficiency | Fragile X Syndrome

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	Diagnostic Testing	Familial Mutation/Variant Analysis	Mutation Testing General Population	Prenatal Diagnosis	Presymptomatic Testing
CGG Repeat Expansion Analysis	FMR1 CGG Repeat Expansion Analysis Test Code: 6573			FMR1 CGG Repeat Expansion Analysis Test Code: 6574 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. Cultured Amniocytes ONLY.
Sequence Analysis	FMR1 Sequence Analysis Test Code: 6570 We recommend that test (#6573) for CGG repeat expansion be performed prior to gene sequencing.	FMR1 Sequence Analysis Test Code: 6571 This test can only be performed if there is a previously identified familial mutation.		FMR1 Sequence Analysis Test Code: 6572 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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FMR1 CGG Repeat Expansion Analysis
Test Information:	Confirmation of Clinical Diagnosis, Carrier testing
Test Details
Test Code:	6573
Special Notes:	PCR analysis across the CGG repeat region of the FMR1 gene to determine allele size(s). This assay is particularly sensitive for identifying premutation alleles. Expansions greater than 149 repeats are reflexed to Southern analysis for confirmation of expansion and methylation status. If a saliva or buccal swab was submitted initially, a request for a blood sample will be made to perform this additional analysis.
Technical Information
Methodology:	PCR; Southern analysis for samples with large expansions
Gene Name:	FMR1
Protein Name:	Fragile X mental retardation 1 protein
Test Type:	CGG Repeat Expansion 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.
Specimen Type:	Buccal Swab
Requirements:	Collected with ORAcollect•Dx(OCD-100) self-collection kit (provided by Baylor Genetics with instructions). It is highly recommended that the sample be collected by a healthcare professional.
Shipping Conditions:	Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.
Specimen Type:	Purified DNA
Requirements:	Send 10-15ug of purified DNA (minimal concentration of 50ng/uL; A260/A280 of ~1.75-2.0)
Shipping Conditions:	Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.
Specimen Type:	Saliva
Requirements:	Collected with Oragene DNA Self-Collection Kit (provided by Baylor Genetics with instructions).
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:	81243x1

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