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

Hypoxanthine phosphoribosyltransferase 1

The enzyme encoded by this gene plays a central role in the generation of purine nucleotides through the purine salvage pathway. Mutations in this gene result in X-linked recessive Lesch-Nyhan syndrome or gout.

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:

Kelley-Seegmiller syndrome
HPRT1
Lesch-Nyhan syndrome
HPRT1
Update:
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