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Test Code TALDO Polyols, Quantitative, Urine

Useful For

Diagnosing deficiencies of transaldolase, transketolase, sedoheptulose, or ribose-5-phosphate isomerase

Reporting Name

Polyols, QN, U

Specimen Type

Urine


Necessary Information


1. Patient's age is required.

2. Biochemical Genetics Patient Information (T602) is recommended, but not required, to be filled out and sent with the specimen to aid in the interpretation of test results.



Specimen Required


Supplies: Urine Tubes, 10 mL (T068)

Specimen Volume: 2 mL

Collection Instructions:

1. Collect a random urine specimen.

2. No preservative.


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time
Urine Refrigerated (preferred) 28 days
  Frozen  28 days

Reject Due To

  All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Genetics Test Information

This is a screening test for disorders of the pentose phosphate pathway such as transaldolase deficiency, transketolase deficiency, sedoheptulokinase deficiency, or ribose-5-phosphate isomerase deficiency.

Reference Values

ERYTHRITOL

≤11 months: <220 mmol/mol creatinine

1-3 years: <267 mmol/mol creatinine

4-17 years: <171 mmol/mol creatinine

>or =18 years: <99 mmol/mol creatinine

 

ARABINITOL

≤11 months: <140 mmol/mol creatinine

1-3 years: <149 mmol/mol creatinine

4-17 years: <97 mmol/mol creatinine

>or =18 years: <51 mmol/mol creatinine

 

RIBITOL

≤11 months: <31 mmol/mol creatinine

1-3 years: <31 mmol/mol creatinine

4-17 years: <17 mmol/mol creatinine

>or =18 years: <11 mmol/mol creatinine

 

SEDOHEPTULOSE

≤11 months: <76 mmol/mol creatinine

1-3 years: <27 mmol/mol creatinine

4-17 years: <28 mmol/mol creatinine

>or =18 years: <22 mmol/mol creatinine

Day(s) Performed

Tuesday; Friday

Report Available

3 to 7 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82542

Method Name

Gas Chromatography Mass Spectrometry (GC-MS)

Forms

1. Biochemical Genetics Patient Information (T602)

2. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.