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About DMD

Duchenne’s Muscular Dystrophy (DMD) is a condition of progressive muscle weakness that primarily affects males. Genetic testing of the DMD gene can establish a molecular diagnosis for your patients as well as capture severity and disease progression. 
 
In addition to Duchenne’s Muscular Dystrophy, testing the DMD gene can shed light on potential diagnoses for Becker’s Muscular Dystrophy and dilated cardiomyopathy.

The PerkinElmer Genomics Difference

  •  Enhanced NGS coverage with powerful bioinformatics to detect the majority of copy number variants (CNVs) at least 3 exons in size.
  • One of the fastest average turn-around-times at 3 weeks or less and STAT options available with a TAT of 7 to 10 days.
  • Flexible convenience with multiple sample types,  including saliva swabs, dried blood spots, whole blood, and genomic DNA.

DMD Testing Options

Test Code Test Name Turn Around Time
D4045 Comprehensive DMD Testing

1 Genes

3-5 weeks Learn More
D5125 DMD Del/Dup Testing

1 Genes

2 weeks Learn More
Test Code Test Name Turn Around Time
D4045F STAT Comprehensive DMD Test (Sequencing and Deletion/Duplication)

1 Genes

7 -10 days Learn More

How to Order

1. Complete & print the test requisition.

Ensure that:

  •      All sections are complete
  •      You have the correct test code
  •      Your patient has signed an informed consent

2. Collect patient sample.

Obtain a sample for testing from the patient and confirm that the sample is correctly labeled with the patient’s name and date of birth.

Note: if you do not have a PerkinElmer Genomics kit available in your office, please email or call us at 1-866-354-2910.

3. Send patient sample.

Ship your test kit back using the pre-paid shipping label. Remember to include:

✔   Patient sample

✔   Completed informed consent

✔   Test requisition form

✔   Any applicable medical records or clinical notes

General Requisition Form

FAQS

The DMD test options have an average turn-around-time of 3 weeks or less. STAT testing is also available to accelerate the delivery of results to patient with a TAT of 7-10 days.

  1. Select the correct test for your patient, then download and fill out the Clinical Genomics test requisition form.
    • Please make sure that all sections are completed and that the patient has signed an informed consent form.
    • If a TRIO is ordered, please fill out the “Familial Information” section for tracking purposes.
  2. Obtain a sample for testing from the patient using one of the provided PerkinElmer Genomics test packs. If you do not have a kit available in your office, please contact us here, and we can have one sent out to your office.
    • Ensure that all samples are labeled with the patient name and date of birth.
    • For WES/WGS Trio tests, parental and/or family member samples can be submitted separately from the patient/proband, if needed. Additional samples must be received by the laboratory within three weeks of the original patient/proband submission.
      • All parental/family member samples must be submitted with a fully completed Family Member Requisition and Informed Consent form, complete with both physician and patient signatures.
  3. Package sample(s), informed consent form(s) and test requisition form(s) back into the test kit, and utilize the included pre-paid shipping label to return the kit to PerkinElmer Genomics for processing.
    • As a patient’s clinical presentation is an essential part of fully interpreting genetic test results, we ask that you kindly include any applicable medical records or clinical notes with the sample at the time of test submission.

PerkinElmer Genomics accepts multiple sample types including Saliva Swabs, Dried Blood Spots, Whole Blood, and Genomic DNA.

Yes, you can opt to ship testing kits directly to patients in our online ordering portal. Find out more about the process here.

PerkinElmer Genomics follows the published ACMG guidelines when classifying identified variants.

If you have additional questions, please feel free to email or call us at 1-866-354-2910.