HPRT Sequence Analysis (Prenatal Diagnosis)

GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000512001.2
Last updated: 2023-07-21
Test version history
- 512001.2, last updated: 2023-07-21
- 512001.1, last updated: 2018-07-05

Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Offered by Baylor Genetics

Indication

This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation, Pre-symptomatic, Risk Assessment, Screening

Imported from GeneReviews

HPRT1 disorders, caused by deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGprt), are typically associated with clinical evidence for overproduction of uric acid (hyperuricemia, nephrolithiasis, and/or gouty arthritis) and varying degrees of neurologic and/or behavioral problems. Historically, three phenotypes were identified in the spectrum of HPRT1 disorders: Lesch-Nyhan disease (LND) at the most severe end with motor dysfunction resembling severe cerebral palsy, intellectual disability, and self-injurious behavior; HPRT1-related neurologic dysfunction (HND) in the intermediate range with similar but fewer severe neurologic findings than LND and no self-injurious behavior; and HPRT1-related hyperuricemia (HRH) at the mild end without overt neurologic deficits. It is now recognized that these neurobehavioral phenotypes cluster along a continuum from severe to mild.

Imported from Human Phenotype Ontology (HPO)

Podagra
Nephrolithiasis
Hyperuricemia
Hyperuricosuria
Renal insufficiency

Conditions tested

General population with clinical diagnosis of disease

Citations

Not provided

Reviews

Clinical resources

Molecular resources

Consumer resources

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HPRT Sequence Analysis (Prenatal Diagnosis)

Indication

Clinical summary

Imported from GeneReviews

Clinical features