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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 standard turnaround times in the industry with STAT options available for most tests.
  • Flexible convenience with multiple sample types,  including saliva swabs, dried blood spots, whole blood, and genomic DNA.
Order Testing

DMD Testing Options

Test Code Test Name Turn Around Time
D3100 AnyGene™

1 Genes

 3-5 weeks Order Test
D4045 Comprehensive DMD Testing

1 Genes

 3-5 weeks Order Test
D5125 DMD Del/Dup Testing

1 Genes

 2 weeks Order Test

Test Code Test Name Turn Around Time
D3100F STAT AnyGene™

1 Genes

 7 -10 days Order Test
D4045F STAT Comprehensive DMD Test (Sequencing and Deletion/Duplication)

1 Genes

 7 -10 days Order Test

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 to 5 weeks. STAT testing is also available to accelerate the delivery of results to patients with a TAT of 7-10 days.

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.