crtap sequencing

• November 28th, 2006

Good morning all,

Baylor’s Medical Genetics Laboratories would like to announce the addition of a new test. We are now offering diagnostic sequencing testing for Autosomal Recessive Osteogenesis Imperfecta-CRTAP gene.

The sequencing test and the KFM is found on our DNA requisition form:

http://www.bcm.edu/geneticlabs/forms/dna.pdf

Also, we will offer a Prenatal for this test.

http://www.bcm.edu/geneticlabs/forms/prenatal.pdf

Test code information as follows:

6310-index case (sequencing)

6315- KFM

6320-prenatal

Please check the Test Information Sheet for CPT codes. All CPT codes are listed. You can access the information sheet through the “Find Test in List” search engine or the “Search Diagnostic Test” search engine. For a quick summary read the HHMI News article, “Genetic Mutation Explains Form of Brittle Bone Disease” or use this link http://www.hhmi.org/news/lee20061019.html. The journal paper title is “CRTAP Is Required for Prolyl 3-Hydroxylation and Mutations Cause Recessive Osteogenesis Imperfecta”(Cell 127, 291-304, October 20, 2006).

Thanks,

Alex H. Quick, B.S.

Account Representative

Medical Genetics Laboratories

Baylor College of Medicine

713-798-7656

ahamilto@bcm.edu

visit our website at

www.bcmgeneticlabs.org

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