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.
Tyrosinemia, Type 1 tests available.

FAH Deficiency | Fumarylacetoacetase Deficiency | Fumarylacetoacetate Hydrolase Deficiency | Hepatorenal Tyrosinemia | Hereditary Tyrosinemia Type I

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	Diagnostic Testing	Familial Mutation/Variant Analysis	Prenatal Diagnosis
Analyte Analysis	Succinylacetone Determination - Urine Test Code: 4250 Succinylacetone is very labile. Sample must be kept frozen at all times.
Deletion/Duplication Analysis	FAH Deletion/Duplication Analysis Test Code: 3448
Sequence & Deletion/Duplication Analysis	FAH Comprehensive - Sequence & Deletion/Duplication Analysis Test Code: 3449
Sequence Analysis	FAH Sequence Analysis Test Code: 3445	FAH Sequence Analysis Test Code: 3446 This test can only be performed if there is a previously identified familial mutation.	FAH Sequence Analysis Test Code: 3447 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. FAH Prenatal Sequence Analysis (GeneAware) Test Code: 60337 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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FAH Sequence Analysis
Test Information:	Confirmation of Clinical Diagnosis, Carrier Testing
Test Details
Test Code:	3445
Special Notes:	If the mutation to be tested in this individual is one previously identified in an affected family member, please order test (#3446). Please see detailed requirements under this test code.
Technical Information
Methodology:	Sequence analysis is performed in both forward and reverse directions
Gene Name:	FAH
Protein Name:	Fumarylacetoacetase
Test Type:	Sequence 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:	Saliva
Requirements:	Collected with Oragene DNA Self-Collection Kit (provided by MGL with instruction).
Shipping Conditions:	Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.

Billing Information
Turn Around Time:	28 days
List Price:	*For Insurance or Institutional Prices, please call.
CPT Codes:	81406x1

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