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The PerkinElmer Genomics Difference
- Enhanced NGS coverage with powerful bioinformatics to detect the majority of the copy number variants (CNVs)
- 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
Test Code | Test Name | Turn Around Time | |
D4035 | Comprehensive Neuromuscular Disorders Panel | 3-5 weeks | Order Test |
D4037 | Charcot Marie Tooth Disease Panel | 2-3 weeks | Order Test |
D4032 | Comprehensive Muscular Dystrophy Panel | 2-3 weeks | Order Test |
D4020 | Comprehensive Neuropathies Panel | 2-3 weeks | Order Test |
D4019 | Hereditary Dementia and Amyotrophic Lateral Sclerosis Panel | 2-3 weeks | Order Test |
D4022 | Hereditary Neuropathy Sequencing Panel | 3-5 weeks | Order Test |
D4018 | Hereditary Parkinson’s Disease and Parkinsonism Panel | 2-3 weeks | Order Test |
D5218 | Limb-Girdle Muscular Dystrophy Panel | 2-3 weeks | Order Test |
D5224 | Periodic Paralysis Panel | 2-3 weeks | Order Test |
Test Code | Test Name | Turn Around Time | |
D4035F | STAT Comprehensive Neuromuscular Disorders Panel | 7 -10 days | Order Test |
D4037F | STAT Charcot Marie Tooth Disease Panel | 7 -10 days | Order Test |
D4032F | STAT Comprehensive Muscular Dystrophy Panel | 7 -10 days | Order Test |
D4020F | STAT Comprehensive Neuropathies Panel | 7 -10 days | Order Test |
D4019F | STAT Hereditary Dementia and Amyotrophic Lateral Sclerosis Panel | 7 -10 days | Order Test |
D4022F | STAT Hereditary Neuropathy Sequencing Panel | 7 -10 days | Order Test |
D4018F | STAT Hereditary Parkinson’s Disease and Parkinsonism Panel | 7 -10 days | Order Test |
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
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 submit a request to PerkinElmer Genomics, or email PerkinElmer Genomics, or call us at 1-866-354-2910.
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.
If you have additional questions, please feel free to email or call us at 1-866-354-2910.