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Catalog ID DMS Gene Muscular Dystrophy Genetic Testing (free sponsored testing)

Important Note

Order: Ref Misc Referral Lab Test

Comment: Invitae Muscular Dystrophy

Note: This is FREE genetic testing offered to patients suspected of having muscular dystrophy.

Eligibility

Patients must meet one or more of the following criteria:

  • Progressive muscle weakness
  • Elevated CK levels
  • Presumptive positive DMD from Newborn Screening Program
  • Cardiac or respiratory involvement
  • Calf hypertrophy or pseudohypertrophy
  • Muscle biopsy showing dystrophic changes and/or immunohistochemical evidence for specific muscular dystrophy subtype
  • Family history of muscular dystrophy*

*This program is not for determining carrier status of individuals, but those who are symptomatic of disease.

Specimen Requirements

Request specimen collection kit from the Specimen Referral Laboratory at 706-721-4868 or send the patient to the 2nd floor MOB Laboratory.

Fill out the requisition that is under the "Resources" section on the left side of this screen. It must have a physician's signature. Submit the requisition form with the completed kit or have the patient present it to the laboratory for draw.

Turn Around Time

10-21 days

Performing Laboratory

Invitae

https://www.invitae.com/en/detect-muscular-dystrophy/