MOLECULAR STUDY PRIMARY HIPEROXALURIA TYPE 2 (GRHPR) SECUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4118

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	40 days
Information:
Primary hyperoxaluria type 2 (PH2), caused by deficiency of the enzyme glyoxylate reductase/hydroxypyruvate reductase (GR/HPR), is characterized by recurrent nephrolithiasis (deposition of calcium oxalate in the renal pelvis/urinary tract), nephrocalcinosis (deposition of calcium oxalate in the renal parenchyma), and end-stage renal disease (ESRD). After ESRD, oxalosis (widespread tissue deposition of calcium oxalate) usually develops. Symptom onset is typically in childhood. the only gene associated with PH2 is GRHPR. PH2 is inherited in an autosomal recessive manner. Carrier testing for at-risk family members and prenatal testing for pregnancies at increased risk are possible if the disease-causing mutations in the family are known.
Links:
OMIM Entry - # 260000 - HYPEROXALURIA, PRIMARY, TYPE II; HP2
Orphanet- D glycerate dehydrogenase deficiency Primary hyperoxaluria type 2
Primary hyperoxaluria - Genetics Home Reference
OMIM Entry - - 604296 - GLYOXYLATE REDUCTASE-HYDROXYPYRUVATE REDUCTASE; GRHPR

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