Multiple epiphyseal dysplasia (MED) NGS panel

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.: GTR000592226.1
Last updated: 2020-11-30
Test version history
- 592226.1, last updated: 2020-11-30

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 Legg-Calve-Perthes disease
Offered by HNL Genomics Connective Tissue Gene Tests

Indication

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

Imported from OMIM

Legg-Calve-Perthes disease (LCPD) is characterized by loss of circulation to the femoral head, resulting in avascular necrosis in a growing child. Clinical pictures of the disease vary, depending on the phase of disease progression through ischemia, revascularization, fracture and collapse, and repair and remodeling of the bone. The disease occurs more frequently in boys, and most patients tend to be shorter than their peers. Both familial and isolated cases of LCPD have been reported (summary by Chen et al., 2004).

Imported from Human Phenotype Ontology (HPO)

Short stature
Delayed skeletal maturation
Legg-Calve-Perthes disease

Conditions tested

Individuals whose clinical findings are consistent with the specific disorder.

Citations

Not provided

Reviews

Clinical resources

Molecular resources

Consumer resources

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Multiple epiphyseal dysplasia (MED) NGS panel

Indication

Clinical summary

Imported from OMIM

Clinical features