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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.
- 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.
- 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.
Neurology Testing Options
|Test Code||Test Name||Turn Around Time|
|D5211||Expanded Leukodystrophy Panel with ABCD1
|3-5 weeks||Order Test|
How to Order
1. Complete & print the test requisition below.
- 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
The Neurology panels 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 submit a request to PerkinElmer Genomics, or 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.
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.
Please utilize the Exome and Panel Coverage Tool to verify specific gene coverage: https://apps.perkinelmergenomics.com/gene-coverage/.
If you have additional questions, please feel free to email or call us at 1-866-354-2910.