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HYPOTONIA PANEL

Hypotonia is a state of low muscle tone often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength. Recognizing hypotonia, even in early infancy, is usually relatively straightforward, but diagnosing the underlying cause can be difficult.

Infants who suffer from hypotonia are often described as feeling and appearing as though they are “rag dolls” easily slipping through one's hands. They are unable to maintain flexed ligaments, and are able to extend them beyond normal lengths. Often, the movement of the head is uncontrollable. Hypotonic infants often have difficulty feeding, as their mouth muscles cannot maintain a proper suck-swallow pattern, or a good breastfeeding latch.

The hypotonia panel includes three assays: Testing for spinal muscular atrophy (SMN1/2), myotonic dystrophy (DM1) and Prader-Will/Angelman syndromes.

Uniparental disomy of maternal chromosome 14 can be also be performed as a reflex test if the initial panel result is negative.

CPT Codes: 81329, 81234, 81331

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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