Description:

This test provides quantitative values for a wide range of purine bases and nucleosides. Compounds included are: adenine, xanthine, hypoxanthine, adenosine, deoxyadenosine, guanosine, inosine, and succinyladenosine. This screen is useful in the diagnosis of a wide range of inherited diseases including severe combined immune deficiency due to adenosine deaminase deficiency or purine nucleoside phosphorylase deficiency, molybdenum cofactor disease, Lesch-Nyhan disease, and adenylosuccinate lyase deficiency. This analysis is performed by isotope dilution on the tandem mass spectrometer.

Specimen Requirements:

3 ml of random urine stored frozen without preservatives. Ship frozen by overnight carrier.

Pediatric Normal Range:

Xanthine: 3 - 40 mmol/mole creatinine
Inosine: 0 - 3 mmol/mole creatinine
Guanosine: 0 - 1.3 mmol/mole creatinine
Adenine: 0.3 - 8 mmol/mole creatinine
Adenosine: 0.2 - 10 mmol/mole creatinine
Deoxyadenosine: 0 mmol/mole creatinine
Hypoxanthine: 1 - 30 mmol/mole creatinine
Succinyladenosine: 0.5 - 15 mmol/mole creatinine

Turnaround Time:

7 days

CPT Codes and Prices:

82570, 83789x7

Shipping Information

Forms:

>> Biochemical Requisition

Test Codes:

4220

Medical Genetics Laboratories
Baylor College of Medicine · Houston, TX 77030
Phone: 1-800-411-GENE · Fax: 713-798-6584
E-mail: