Test Code: MGX003

This test allows the detection of deletions or duplication in the DMD gene in genomic DNA isolated from human samples for the purpose of clinical diagnosis of Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD).  This test can be additionally useful for carrier testing and potential for targeted treatment.

Multiplex Ligation-dependent Probe Amplification (MLPA)

Peripheral blood

Requirements: Collect 3 ml – 5 ml of whole blood in EDTA (purple top tube), minimum 1 ml for small infants.

 

Shipping: DO NOT FREEZE. Include a frozen ice pack in the shipping container. Place a paper towel or other thin material between the ice pack and the blood tube. At room temperature, a blood specimen is stable for up to 48 hours. If refrigerated, a blood specimen is stable for up to one week.

 

Dried Blood Spot (DBS)

Requirements: Send 4 or more completely filled spots, each 10 mm in diameter. DBS cards should dry at room temperature for at least 3 hours after collection. DNA from DBS cards has inconsistent quantity and quality, which may result in delayed testing and/or the need for a second specimen.

 

Shipping: Send specimens at room temperature and after drying.

 

DNA

Requirements: Send in a screw cap tube at least 5 µg -10 µg of purified DNA at a concentration of at least 100 ng/uL, minimum 2 µg for limited specimens. Indicate concentration on tube label. For requests requiring more than one test, send an additional 5 µg DNA per test ordered when possible. DNA quality should be measured at A260/280 and be >1.8 for the sample to be acceptable for processing

 

Shipping: Specimens may be shipped at room temperature. Label the tube with the composition of the solute and DNA concentration along with the patient’s name, date of birth, and/or ID number. DNA must be extracted using a column-based purification technique.

 

BUCCAL SWABS

Requirements:  Buccal Swab should be used according to manufacturer instructions.

 

Shipping: Specimens may be shipped at room temperature.

  • Standard (2-3 weeks)
  • Urgent (1 week)

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