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Test Catalog

Test ID: TALDO    
Polyols, Quantitative, Urine

Useful For Suggests clinical disorders or settings where the test may be helpful

Diagnosis of transaldolase (TALDO) deficiency or ribose-5-phosphate isomerase (RPI) deficiency

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

This is a screening test for transaldolase deficiency (TALDO) or ribose-5-phosphate isomerase (RPI) deficiency.

Highlights

Transaldolase (TALDO) deficiency and ribose-5-phosphate (RPI) deficiency are 2 recently described multisystem disorders of the pentose phosphate pathway.

 

Polyols analysis in urine is the method of choice for detecting TALDO deficiency and RPI deficiency.

 

Confirmation of a positive result via molecular analysis is recommended.

Method Name A short description of the method used to perform the test

Gas Chromatography/Mass Spectrometry (GC/MS)

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Polyols, QN, U

Aliases Lists additional common names for a test, as an aid in searching

Taldo
Transaldolase deficiency
PPP deficiency
Pentose phosphate pathway
RPI deficiency
Ribose-5-phosphate deficiency
Polyols