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

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

external link
2.

Orphanet article

Orphanet ID 242313 external link
3.

NCBI article

NCBI 112817 external link
4.

OMIM.ORG article

Omim 613597 external link
5.

Wikipedia article

Wikipedia EN (HOGA1) external link
Update: Aug. 14, 2020
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