Polyols, Quantitative, Urine

Casandra

Casandra Test Code MC58173Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID TALDOCPT Code 82542

Polyols, Quantitative, Urine

Clinical Use

Use

Polyols are sugar alcohols identified in blood, urine, and CSF. Characteristic abnormal urinary polyol patterns may indicate inborn errors of the pentose phosphate pathway, including transaldolase (TALDO), transketolase, and ribose‑5‑phosphate isomerase (RPI) deficiencies. This assay is the method of choice for biochemical screening of these disorders. Sedoheptulokinase deficiency may also be detected, though its clinical correlation is unclear. Abnormal results should be confirmed via enzymatic or molecular genetic testing. Interpretation is pattern‑based and supported by comprehensive report including differential diagnosis and follow‑up guidance. (Summarized from “Clinical Information”, “Highlights”, “Genetics Test Information”, and interpretive content.)

Special Instructions

Patient age is required. It is recommended (but not required) to include the “Biochemical Genetics Patient Information” form (T602) with the specimen. If ordering outside electronic systems, complete and send the “Biochemical Genetics Test Request” form (T798) with the specimen. (Summarized from “Necessary Information” and “Forms”.)

Limitations

A positive result is diagnostic for transaldolase or RPI deficiency, but confirmation by molecular analysis is strongly recommended. Interpretation may be affected by improper specimen collection, handling, or inappropriate test selection. All profiles are reviewed by laboratory director and interpretation is pattern‑based; correlation to clinical presentation is critical. (From “Cautions” and interpretive description.)

Test Details

New York Approved