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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.
  • Average turn-around-times of 3-5 weeks and STAT options available with a TAT of 7 to 10 days.
  • Easily reflex to Whole Exome Sequencing if your initial panel does not find a cause of disease.
  • Flexible convenience with multiple sample
  • types, including saliva swabs, dried blood spots, whole blood, and genomic DNA.

Neuromuscular Testing Options

Panels include NGS-based capture with no additional assays or pseudogene testing.

Test Code Test Name Turn Around Time
D8002 Complete Neuromuscular Disease Panel with FSHD Type 1 Testing

132 Genes

10-12 weeks Learn More
TR003 Neuromuscular TRIO Panel

132 Genes

3-5 weeks Learn More
D4035 Comprehensive Neuromuscular Disorders Panel

132 Genes

3-5 weeks Learn More

Prioritized NGS-based testing with accelerated turn-around-times of 7 to 10 days.

Test Code Test Name Turn Around Time
TR003F STAT Neuromuscular TRIO Panel

132 Genes

7 -10 days Learn More
D4035F STAT Comprehensive Neuromuscular Disorders Panel

132 Genes

7 -10 days Learn More
Test Code Test Name Turn Around Time
D8002 Complete Neuromuscular Disease Panel with FSHD Type 1 Testing

132 Genes

10-12 weeks Learn More

How to Order

1. Complete & print test requisition below.

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

Resources

Requisition Form – Panel Testing
Requisition Form – TRIO Family Member

FAQS

The Neuromuscular 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.

For pricing, please email PerkinElmer Genomics or call us at 1-866-354-2910.

Panels include NGS-based capture with no additional assays or pseudogene testing. PanelPlus include the selected panel PLUS the listed ancillary assay.

TRIO-based are large genetic testing panels are specially designed for phenotypes that could be caused by a large number of genes. Whether the panel contains hundreds or thousands of genes, a TRIO-based method aids in clinical interpretation for clearer results.

No, TRIO-Based Panels cannot be customized at this time.

The TRIO Family Member form is a separate form if or when you send the family member samples separately from the patient’s sample.

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.

All reported variants are confirmed using an orthogonal method.

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

The genes on our pre-curated panels were chosen by our expert team of board-certified geneticists based on the clinical indication of the test and the genes’ association with disease.

Yes, a full list of pre-curated panels can be found by contacting us.

For questions about gene coverage, please email PerkinElmer Genomics or call us at 1-866-354-2910.

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