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Order 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 Special Container
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

Method Description

Urine specimens are spiked with a mixture of labeled internal standards, allowed to equilibrate, and evaporated. The dry residue is derivatized to form trimethylsilyl esters then extracted with hexane. Specimens are analyzed by gas chromatography mass spectrometry, selected ion monitoring using ammonia chemical ionization and a stable isotope dilution method.(Jansen G, Muskiet F, Schierbeek H, et al. Capillary gas chromatography profiling of urinary, plasma, and erythrocyte sugars and polyols as their trimethylsilyl derivatives, preceded by a simple and rapid prepurification method. Clin Chim Acta 1986;157(3):277-294, Kaur P, Wamelink MMC, van der Knaap MS, et al. Confirmation of a rare genetic leukoencephalopathy due to a novel bi-allelic variant in RPIA. Eur J Med Genet. 2019;62(8):103708. doi:10.1016/j.ejmg.2019.103708)

Day(s) Performed

Tuesday; Friday

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.