Carnitine Biosynthesis Panel, Urine

Carnitine Biosynthesis Panel, Urine

Carnitine Biosynthesis Panel, Urine

Test Information: Quantitative determination of trimethyllysine, gamma-butyrobetaine, and L-carnitine in urine. This test is useful for the diagnostic evaluation of patients with autism and autism spectrum disorders. This test will detect X-linked Trimethyllysine hydroxylase (TMLHE) deficiency.
Test Details
Test Code: 110025

Tandem Mass Spectrometry

Test Type

Analyte Analysis

Reference Ranges

Ranges are provided in the report

Sample Shipping Information
Specimen: Urine
Collection Tube: Plastic Urine Tube (no additives)
Sample Volume: 4 mL Urine
Min Sample Volume 2 mL Urine

Requirements: Collect 4 mL of random urine in a preservative free specimen container. Freeze urine at -20C.

Shipping Conditions: Ship overnight, frozen on dry ice, in an insulated container.

Note: Include relevant family history, clinical condition (acute episode or asymptomatic), diet and drug therapy regimen. Patient’s age is required. This test is performed at Baylor Medical Genetics Laboratories.

Specimen Rejection: Issue:
  • Ambient – Internal-Accepted, External-Rejected
  • Refrigerated – Internal-Accepted, External-Rejected
  • Frozen – Accepted (preferred)

QNS – Rejected
Tube w/ additives – Rejected

Turn Around Time: Maximum 18 days
Billing Information
List Price: Call for pricing.
CPT Codes: 82570, 82491, 83789×2, 82360

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