Waardenburg syndrome, type 4B, 613265, Autosomal recessive, Autosomal dominant; WS4B (Waardenburg-Shah syndrome) (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.: GTR000579029.1
Last updated: 2022-05-14
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Test version history
- 579029.1, 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 Waardenburg syndrome type 4B
Offered by Intergen

Indication

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

Imported from OMIM

Waardenburg syndrome type 4 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the eye, deafness, and Hirschsprung disease (review by Read and Newton, 1997). WS type 4B is caused by mutation in the EDN3 gene (131242). WS type 4 is genetically heterogeneous (see WS4A; 277580). For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS2 (193510), and WS3 (148820).

Imported from Human Phenotype Ontology (HPO)

Sensorineural hearing impairment
Aganglionic megacolon
Premature graying of hair
White forelock
Heterochromia iridis
Blue irides
Hypopigmented skin patches
White eyelashes
White eyebrow

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Conditions tested

Waardenburg syndrome, type 4B, 613265, Autosomal recessive, Autosomal dominant; WS4B (diagnosis/ clinical suspition/ etiology investigation/ classification)

Citations

Not provided

Reviews

Clinical resources

Molecular resources

Consumer resources

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Waardenburg syndrome, type 4B, 613265, Autosomal recessive, Autosomal dominant; WS4B (Waardenburg-Shah syndrome) (MLPA)

Indication

Clinical summary

Imported from OMIM

Clinical features