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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.
Order Testing

Neurology Testing Options

Test Code Test Name Turn Around Time
D4003 Infantile Epilepsy Panel

76 Genes

2-3 weeks Order Test
D4019 Hereditary Dementia and Amyotrophic Lateral Sclerosis Panel

33 Genes

2-3 weeks Order Test
D4022 Hereditary Neuropathy Sequencing Panel

122 Genes

3-5 weeks Order Test
D4023 Comprehensive Brain Malformations Panel

93 Genes

2-3 weeks Order Test
D4025 Lissencephaly Panel

24 Genes

2-3 weeks Order Test
D4026 Ceroid Lipofuscinosis Panel

13 Genes

2-3 weeks Order Test
D5130 Focused Autism and Intellectual Disability Panel

263 Genes

3-5 weeks Order Test
D4037 Charcot Marie Tooth Disease Panel

62 Genes

2-3 weeks Order Test
D4042 FMR1 Triplet Repeat (CGG) Testing

1 Gene

10-14 days Order Test
D4002 Comprehensive Epilepsy Panel

99 Genes

3-5 weeks Order Test
D4010 Myoclonic Dystonia Panel

2 Genes

2-3 weeks Order Test
D4011 Spastic Paraplegia Panel Complete

55 Genes

2-3 weeks Order Test
D4012 Dystonia Panel

17 Genes

2-3 weeks Order Test
D4013 Joubert and Meckel-Gruber Syndromes Panel

30 Genes

2-3 weeks Order Test
D4014 Aicardi-Goutieres Syndrome Panel

7 Genes

2-3 weeks Order Test
D4016 Brain Iron Accumulation Syndromes Panel

9 Genes

2-3 weeks Order Test
D4021 Neurodegeneration Panel

38 Genes

2-3 weeks Order Test
D4043 Adrenoleukodystrophy Panel with ABCD1

15 Genes

2-3 weeks Order Test
D5203 Rett, Angelman and Related Syndromes Panel

20 Genes

2-3 weeks Order Test
D5211 Expanded Leukodystrophy Panel with ABCD1

291 Genes

3-5 weeks Order Test
D5213 Hemiplegic Migraine Panel

4 Genes

2-3 weeks Order Test
D5222 Nervous System and Brain Tumor Panel

17 Genes

2-3 weeks Order Test

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

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 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.