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.

Tyrosinemia Type I | 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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Succinylacetone Determination - Urine
Test Information:	This test provides quantitative analysis of Succinylacetone for the diagnosis of Tyrosinemia Type I.
Test Details
Test Code:	4250
Special Notes:	Succinylacetone is very labile. Sample must be kept frozen at all times. We require at least 10 ml of urine. Collection can be accomplished by collecting multiple samples and pooling. The pooling sample must maintain frozen during subsequent collections.
Technical Information
Methodology:	Gas Chromatography/Mass Spectroscopy
Gene Name:	FAH
Protein Name:	Fumarylacetoacetase
Test Type:	Analyte Analysis
References Values or Ranges:	Normal Range: 0-2.5 mmol/ml creatinine

Sample & Shipping Information
Test Requisition:	Biochemical
Specimen Type:	Urine
Requirements:	Send 10 cc of random urine. Succinylacetone is very labile. Freeze the specimen at -20C immediately after collection. Do not add preservatives. Ship to the laboratory as soon as possible
Shipping Conditions:	Ship frozen on 3-5 lbs of dry ice in an insulated container by overnight courier.

Billing Information
Turn Around Time:	8 days
List Price:	*For Insurance or Institutional Prices, please call.
CPT Codes:	82542x1, 82570x1, 83789X1

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