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

[primary hyperoxaluria type 1]

To test for specific mutations in the alanine :glyoxylate aminotransferase (AGT ) gene , in order to diagnose primary hyperoxaluria type 1 (PH 1 ).Samples of liver and /or DNA from 81 patients were submitted to our laboratory for diagnostic testing for PH 1 . Using a panel of selected mutations , DNA was examined in 64 cases , of which 36 had the diagnosis of PH 1 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 PH 1 samples .

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Diseases presenting "focused testing panel currently involving 4 common mutations" symptom

primary hyperoxaluria type 1

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