Primary Hyperoxaluria (PH) is a group of inherited metabolic diseases of the liver characterized by increased formation of calcium-oxalate stones in kidneys with the subsequent development of nephrolithiasis and chronic kidney disease. Hyperoxaluria is defined as elevated urinary excretion of oxalate (more than 40mg in 24 hours), a metabolic end product. This elevated excretion can contribute to the formation of kidney stones and other health problems. Mutations in specific liver enzymes involved in the oxalate metabolism make up the etiology of this disease. There are three main types of PH – PH types I, II and III – differentiated by the specific enzyme that is deficient.
The Igenomix Primary Hyperoxaluria Precision Panel can be used to make a directed and accurate diagnosis and aid in the differential diagnosis of recurrent kidney stones ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
The clinical utility of this panel is:
GENE | OMIM DISEASES | INHERITANCE* | % GENE COVERAGE (20X) | HGMD** |
AGXT | Primary | AR | 99.99 | 210 of 211 |
GRHPR | Primary | AR | 88 | 51 of 51 |
HOGA1 | Primary | AR | 100 | 42 of 42 |
*Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial.
**Number of clinically relevant mutations according to HGMD
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