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MYOTONIC DYSTROPHY DM1

Myotonic dystrophy (DM1) is an inherited disease, affecting males and females approximately equally. About 30,000 people in the United States are affected. Symptoms may appear at any time from infancy to adulthood. DM causes general muscle weakness, usually beginning in the hands, feet, neck, or face. It slowly progresses to involve other muscle groups, including the heart.

Myotonic dystrophy is inherited in an autosomal dominant pattern and thus will be passed along to 50% of a carrier's offspring, on average.In DM1, the affected gene is called DMPK, which codes for myotonic dystrophy protein kinase, a protein expressed predominantly in skeletal muscle. The gene is located on the long arm of chromosome 19.

In DM1, there is an expansion of the cytosine-thymine-guanine (CTG) triplet repeat in the DMPK gene. Between 5 and 37 repeats is considered normal, while individuals with between 38 and 49 repeats are considered to have a pre-mutation and are at risk of having children with further expanded repeats and, therefore, symptomatic disease. Individuals with greater than 50 repeats are almost invariably symptomatic, with some noted exceptions

This assay employs repeat expansion detection by PCR followed by fragment sizing. Southern blot analysis is then performed to determine the number of repeats.

CPT Code: 81234

Specimen Requirements: 2-5 mL Blood- EDTA tube (Lavender Top)

For Buccal Swab or Saliva samples please contact the lab to obtain a collection kit.

Turn-around-time: 28 days

Disease Specific DNA Test Order Form

 

 

 


 

 

Contact Information

OUHSC Genetics Laboratory 1122 NE 13th Street, Suite 1400, Oklahoma City, OK 73104

Phone (405)271-3589 Fax (405)271-7117 After hours phone (405)496-9514

   


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