Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Glyoxylate reductase/hydroxypyruvate reductase

Homozygous or compound heterozygous loss-of-function mutations of the gene ecoding the enzyme glyoxylate reductase/hydroxypyruvate reductase result in hyperoxaluria typ 2 (oxalosis 2)

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 15 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Hyperoxaluria type 2
GRHPR

References:

1.

NCBI article

NCBI 9380 external link
2.

OMIM.ORG article

Omim 604296 external link
3.

Orphanet article

Orphanet ID 122278 external link
4.

Wikipedia article

Wikipedia EN (GRHPR) external link
Update: Aug. 14, 2020
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