Send to

Choose Destination
See comment in PubMed Commons below
Clin Biochem. 2008 May;41(7-8):598-602. doi: 10.1016/j.clinbiochem.2008.01.018. Epub 2008 Feb 7.

Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results.

Author information

  • 1Department of Pediatrics, University of British Columbia, Vancouver, Canada.



To test for specific mutations in the alanine:glyoxylate aminotransferase (AGT) gene, in order to diagnose primary hyperoxaluria type 1 (PH1).


Samples of liver and/or DNA from 81 patients were submitted to our laboratory for diagnostic testing for PH1. Using a panel of selected mutations, DNA was examined in 64 cases, of which 36 had the diagnosis of PH1 confirmed by liver AGT assay. DNA sequencing was employed if mutation testing revealed only one mutation.


Identification of 100% of the mutations in the AGT-confirmed samples led to the development of a focused testing panel currently involving 4 common mutations, 7 mutations recurring at lower frequency and 5 with apparent ethnic associations.


This mutation panel alone would have identified the two causative mutations in 64% of the PH1 samples.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Write to the Help Desk