Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

4-hydroxy-2-oxoglutarate aldolase 1

Mutations of this gene cause hyperoxaluria type 3.

Genetests:

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

Related Diseases:

Hyperoxaluria type 3
HOGA1

References:

1.

Belostotsky R et al. (2010) Mutations in DHDPSL are responsible for primary hyperoxaluria type III.

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Update: Sept. 26, 2018