Lesch-Nyhan syndrome, 300322, X-linked recessive; LNS (Lesch-Nyhan syndrome) (Prenatal) (MLPA)

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.: GTR000582469.1
Last updated: 2022-05-14
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Test version history
- 582469.1, last updated: 2022-05-14

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 Lesch-Nyhan syndrome
Offered by Intergen

Indication

This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis

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)

Megaloblastic anemia
Dysphagia
Dysarthria
Dystonic disorder
Hip dislocation
Hypotonia
Spasticity
Nephrocalcinosis
Seizure
Vomiting
Self-injurious behavior
Choreoathetosis
Opisthotonus
Hyperreflexia
Testicular atrophy
Podagra
Abnormality of extrapyramidal motor function
Short stature
Nephrolithiasis
Global developmental delay
Hyperuricemia
Hyperuricosuria
Poor head control
Motor delay
Intellectual disability

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X-linked inheritance

Conditions tested

Lesch-Nyhan syndrome, 300322, X-linked recessive; LNS (diagnosis/ clinical suspition/ etiology investigation/ classification)

Citations

Not provided

Reviews

Clinical resources

Practice guidelines

EuroGenetest, 2011
Clinical utility gene card for: Lesch-Nyhan syndrome

Molecular resources

Consumer resources

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Lesch-Nyhan syndrome, 300322, X-linked recessive; LNS (Lesch-Nyhan syndrome) (Prenatal) (MLPA)

Indication

Clinical summary

Imported from GeneReviews

Clinical features

Imported from Human Phenotype Ontology (HPO)

Inheritance pattern