Treacher Collins syndrome 1, 154500, Autosomal dominant; TCS1 (Treacher-Collins syndrome) (TCOF1 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

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.: GTR000579400.1
Last updated: 2022-05-14
Annual Review past due read more
Test version history
- 579400.1, 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 Treacher Collins syndrome 1
Offered by Intergen

Indication

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

Treacher Collins syndrome 1, 154500, Autosomal dominant; TCS1 (diagnosis/ clinical suspition/ etiology investigation/ classification)

Citations

Not provided

Reviews

Clinical resources

Molecular resources

Consumer resources

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treacher Collins syndrome 1, 154500, Autosomal dominant; TCS1 (Treacher-Collins syndrome) (TCOF1 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Indication

Clinical summary