Treacher Collins syndrome 1 Comprehensive test

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.: GTR000561110.1
Last updated: 2022-12-23
Test version history
- 561110.1, last updated: 2022-12-23

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 Treacher Collins syndrome 1
Offered by HNL Genomics Connective Tissue Gene Tests

Indication

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

Imported from GeneReviews

Treacher Collins syndrome (TCS) is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities. Hypoplasia of the zygomatic bones and mandible can cause significant feeding and respiratory difficulties. About 40%-50% of individuals have conductive hearing loss attributed most commonly to malformation of the ossicles and hypoplasia of the middle ear cavities. Inner ear structures tend to be normal. Other, less common abnormalities include cleft palate and unilateral or bilateral choanal stenosis or atresia. Typically intellect is normal.

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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Treacher Collins syndrome 1 Comprehensive test

Indication

Clinical summary