TALDO - Overview: Polyols, Quantitative, Urine

Test Catalog

Test Name

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

Screening 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.

Special Instructions and Forms Library of PDFs including pertinent information and consent forms, specimen collection and preparation information, test algorithms, and other information pertinent to test

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

Gas Chromatography/Mass Spectrometry (GC/MS)

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

Conditional

Reporting Name A shorter or abbreviated version of the Published Name for a test; an abbreviated test name

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