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.

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Creatine Panel
Test Information:	This test provides quantitative analysis of Creatine and Guanidinoacetate in plasma and urine. The test is useful for the evaluation of patients suspected of having disorders of Creatine Transport (OMIM 300352) and Synthesis, e.g. Guanidinoacetate Methyltransferase (GAMT) deficiency (OMIM 612736) and Argine:Glycine Amidinotransferase (AGAT) Deficiency (OMIM 612718). Creatine deficiency syndromes are characterized by intellectual disability, severe disturbance of expressive and cognitive speech, seizures (often poorly controlled), and movement disturbances. A common hallmark is cerebral creatine depletion as detected by magnetic resonance spectroscopy. In individuals with AGAT deficiency, both plasma and urine testing reveal extremely low guanidinoacetate (GAA) and creatine concentrations. In GAMT deficiency, high plasma GAA levels are characteristic. GAA is also mildly increased in urea cycle disorder patients with elevated arginine levels. In individuals with X-linked creatine transporter deficiency, urine is required for diagnosis, as plasma levels of GAA and creatine are typically normal in this disorder. The characteristic finding in the urine of individuals with creatine transporter deficiency is an elevated creatine/creatinine ratio. To diagnose all three creatine deficiency syndromes, the Creatine Panel determines GAA and creatine in both plasma and urine by UPLC-tandem mass spectroscopy. Other CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1 CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2 CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CCDS3 GATM DEFICIENCY GAMT DEFICIENCY CREATINE DEFICIENCY SYNDROME, X-LINKED CREATINE TRANSPORTER DEFECT MENTAL RETARDATION, X-LINKED, WITH SEIZURES, SHORT STATURE, AND MIDFACE HYPOPLASIA MENTAL RETARDATION, X-LINKED, WITH CREATINE TRANSPORT DEFICIENCY
Test Details
Test Code:	4015
Technical Information
Methodology:	UPLC-Tandem Mass Spectroscopy
Test Type:	Analyte Analysis
References Values or Ranges:	Ranges are provided in the report.

Sample & Shipping Information
Test Requisition:	Biochemical
Specimen Type:	Plasma and Urine
Requirements:	Draw blood in a Heparin (green-top) tube(s) and separate as soon as possible. Send 2 cc of plasma. Store the specimen frozen at -20°C. Specimen may be stored frozen for up to 14 days. Send 2-4 cc of a random urine. Do not add preservatives. Store the specimen frozen at -20C.
Shipping Conditions:	Ship frozen on 3-5 lbs of dry ice in an insulated container by overnight courier.

Billing Information
Turn Around Time:	10 days
List Price:	*For Insurance or Institutional Prices, please call.
CPT Codes:	82540x2, 82570x1, 83789x1

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