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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. 
  • 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
D5131 Autism and Intellectual Disability Panel

2439 Genes

3-5 weeks Learn More
TR001 Epilepsy TRIO Panel

6794 Genes

3-5 weeks Learn More
TR002 Autism and Intellectual Disability TRIO Panel

2436 Genes

3-5 weeks Learn More
D4001 Childhood-Onset Epilepsy Panel

59 Genes

3-5 weeks Learn More
D4003 Infantile Epilepsy Panel

76 Genes

3-5 weeks Learn More
D4004 Progressive Myoclonic Epilepsy Panel

18 Genes

3-5 weeks Learn More
D4015 Alzheimer and Dementia Panel

7 Genes

3-5 weeks Learn More
D4019 Hereditary Dementia and Amyotrophic Lateral Sclerosis Panel

33 Genes

3-5 weeks Learn More
D4022 Hereditary Neuropathy Sequencing Panel

122 Genes

3-5 weeks Learn More
D4023 Comprehensive Brain Malformations Panel

93 Genes

3-5 weeks Learn More
D4024 Cortical Brain Malformations Panel

56 Genes

3-5 weeks Learn More
D4025 Lissencephaly Panel

24 Genes

3-5 weeks Learn More
D4026 Ceroid Lipofuscinosis Panel

13 Genes

3-5 weeks Learn More
D5130 Focused Autism and Intellectual Disability Panel

264 Genes

3-5 weeks Learn More
D4037 Charcot Marie Tooth Disease Panel

62 Genes

3-5 weeks Learn More
D4002 Comprehensive Epilepsy Panel

99 Genes

3-5 weeks Learn More
Test Code Test Name Turn Around Time
TR001F STAT Epilepsy TRIO Panel

3487 Genes

7 -10 days Learn More
TR002F STAT Autism and Intellectual Disability TRIO Panel

2436 Genes

7 -10 days Learn More
D4001F STAT Childhood-Onset Epilepsy Panel

59 Genes

7 -10 days Learn More
D4002F STAT Comprehensive Epilepsy Panel

99 Genes

7 -10 days Learn More
D4003F STAT Infantile Epilepsy Panel

76 Genes

7 -10 days Learn More
D4004F STAT Progressive Myoclonic Epilepsy Panel

18 Genes

7 -10 days Learn More
D4015F STAT Alzheimer and Dementia Panel

7 Genes

7 -10 days Learn More
D4019F STAT Hereditary Dementia and Amyotrophic Lateral Sclerosis Panel

33 Genes

7 -10 days Learn More
D4022F STAT Hereditary Neuropathy Sequencing Panel

122 Genes

7 -10 days Learn More
D4023F STAT Comprehensive Brain Malformations Panel

93 Genes

7 -10 days Learn More
D4024F STAT Cortical Brain Malformations Panel

56 Genes

7 -10 days Learn More
D4025F STAT Lissencephaly Panel

24 Genes

7 -10 days Learn More
D4026F STAT Ceroid Lipofuscinosis Panel

13 Genes

7 -10 days Learn More
D5130F STAT Focused Autism and Intellectual Disability Panel

264 Genes

7 -10 days Learn More
D5131F STAT Autism and Intellectual Disability Panel

2436 Genes

7 -10 days Learn More
D4037F STAT Charcot Marie Tooth Disease Panel

62 Genes

7 -10 days Learn More
Test Code Test Name Turn Around Time
D4046 Focused Autism and Intellectual Disability Panel with FMR1 CGG Repeat Analysis

264 Genes

3-5 weeks Learn More
Test Code Test Name Turn Around Time
D4046F STAT Focused Autism and Intellectual Disability Panel with FMR1 CGG Repeat Analysis

264 Genes

7 -10 days Learn More

How to Order

1. Complete & print the 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

Requisition Form – Panel Testing
Requisition Form – TRIO Family Member

FAQs

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 email PerkinElmer Genomics or call us at 1-866-354-2910.

No, all Neurology panels are the same cost regardless of the number of genes ordered.

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 here.

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.