Treacher-collins syndrome

Diagnosis and Testing

How do I get tested for Treacher Collins syndrome (TCS)?

Often a diagnosis of Treacher Collins syndrome (TCS) can be made based on the physical features of the individual. Individuals who want to be tested for TCS should schedule an appointment with a medical geneticist for an evaluation. If TCS is suspected based on the findings of the physical exam, the geneticist may order genetic testing to confirm the diagnosis. Genetic testing for TCS can be performed on blood, saliva or skin through an accredited laboratory.

To learn more about how to be tested for Treacher Collins syndrome, speak with a geneticist or genetic counselor. You can find a genetics clinic near you by searching the American College of Medical Genetics. To find a genetic counselor search on the National Society of Genetic Counselors under "Find a Counselor".

References
  • Treacher Collins Syndrome - NORD (National Organization for Rare Disorders). (2013). Retrieved February 29, 2016, from http://rarediseases.org/rare-diseases/treacher-collins-syndrome/
  • Katsanis SH, Jabs EW. Treacher Collins Syndrome. 2004 Jul 20 [Updated 2012 Aug 30]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1532/
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Who else in my family should be tested for Treacher Collins syndrome (TCS)?

Who else in my family should be tested for Treacher Collins syndrome (TCS)?

Familial testing for Treacher Collins syndrome (TCS) depends on the pattern of inheritance in the family. About 60% of those with TCS are the first in their family to have this condition due to a new/sporadic (de novo) genetic change. In this case, the chance for the parents or siblings of the person with TCS to have a mutation would be low. Of note, a parent who has subtle facial features of TCS may not have been diagnosed previous to having a child with more significant features of TCS. Therefore, parents who have a child with TCS may consider genetic testing to determine the chance of having more children with TCS (recurrence risk).

The recurrence in a child with a parent who has TCS due to mutations in TCOF1 or POLR1D gene would be 1 in 2 or 50% regardless of the gender of the child.

In some families, TCS is inherited in an autosomal recessive pattern due to mutations in POLR1C. A person with a genetic change in both copies of their POLR1C gene with have TCS. Each parent passes on one genetic change in this gene and is a carrier of TCS. Carriers of a condition usually don't have medical problems, but if they have children with another carrier of a change in the POLR1C gene, they have a 1 in 4 or 25% chance of having a child with the condition.

Usually it is best to test an individual with TCS first to determine which gene change they have. If the genetic change is found, then it is simple to look directly for that particular change in any one else in the family who is tested.

To learn more about genetic testing for Treacher Collins syndrome, speak with a geneticist or genetic counselor. You can find a genetics clinic near you by searching the American College of Medical Genetics. To find a genetic counselor search on the National Society of Genetic Counselors under "Find a Counselor".

References
  • Treacher Collins Syndrome - NORD (National Organization for Rare Disorders). (2013). Retrieved February 29, 2016, from http://rarediseases.org/rare-diseases/treacher-collins-syndrome/
  • Katsanis SH, Jabs EW. Treacher Collins Syndrome. 2004 Jul 20 [Updated 2012 Aug 30]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1532/

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