MOLECULAR STUDY PRIMARY HIPEROXALURIA TYPE 3 (HOGA1) SECUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4119

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	35 days
Information:
Primary hyperoxaluria type 3 (PH3) has recently been described [Belostotsky et al 2010] with a phenotype similar to that of PH1 and PH2. Diagnosis relies on the exclusion of PH1 and PH2 and sequence analysis of HOGA1. Mutations in HOGA1 result in deficiency of mitochondrial 4-hydroxy-2-oxoglutarate aldolase, an enzyme that catalyzes one of the steps in the metabolism of hydroxyproline. The hyperoxaluria in individuals with PH3 arises from breakdown of the substrate for the enzyme rather than excessive production of glyoxylate.
Links:
OMIM Entry - # 613616 - HYPEROXALURIA, PRIMARY, TYPE III; HP3
Orphanet- Hyperoxaluria non1 non2 type
Primary Hyperoxaluria Type 2 - GeneReviews™ - NCBI Bookshelf
OMIM Entry - - 613597 - 4-HYDROXY-2-OXOGLUTARATE ALDOLASE 1; HOGA1

   Find the record of the test by clicking here