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The PerkinElmer Genomics Difference

  • Enhanced NGS coverage with powerful bioinformatics to detect the majority of the copy number variants (CNVs)
  • 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

Hearing Loss Testing Options

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

Test Code Test Name Turn Around Time
D4401 Deafness Non-Syndromic Sensorineural Autosomal Recessive Panel

46 Genes

 2-3 weeks Order Test
D4402 Waardenburg Syndrome Panel

7 Genes

 2-3 weeks Order Test
D4308 Usher Syndrome Panel

14 Genes

 2-3 weeks Order Test
D4405 Treacher Collins Syndrome Sequencing Panel

3 Genes

 2-3 weeks Order Test
D5205 Comprehensive Hearing Loss Panel

146 Genes

 3-5 weeks Order Test
D5223 Non-Syndromic Sensorineural Deafness Panel

60 Genes

 2-3 weeks Order Test

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

Test Code Test Name Turn Around Time
D4401F STAT Deafness Non-Syndromic Sensorineural Autosomal Recessive Panel

46 Genes

 7 -10 days Order Test
D4402F STAT Waardenburg Syndrome Panel

7 Genes

 7 -10 days Order Test
D4308F STAT Usher Syndrome Panel

14 Genes

 7 -10 days Order Test
D4405F STAT Treacher Collins Syndrome Sequencing Panel

3 Genes

 7 -10 days 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 Hearing Loss panel 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.

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.