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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.

Ophthalmology Testing Options

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

Test Code Test Name Turn Around Time
D4300 Microphthalmia/ Anophthalmia/ Coloboma Spectrum Panel

48 Genes

3-5 weeks Learn More
D4301 Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel

55 Genes

3-5 weeks Learn More
D4302 Achromatopsia, Cone, and Cone-rod Dystrophy Panel

36 Genes

3-5 weeks Learn More
D4303 Retinitis Pigmentosa Panel

66 Genes

3-5 weeks Learn More
D4304 Retina/ Photoreceptor Dystrophy Panel

121 Genes

3-5 weeks Learn More
D4305 Macular Dystrophy/ Degeneration/ Stargardt Disease Panel

15 Genes

3-5 weeks Learn More
D4306 Eye Disorders Comprehensive Panel

211 Genes

3-5 weeks Learn More
D4307 Flecked-retina Disorders Panel

6 Genes

3-5 weeks Learn More
D4308 Usher Syndrome Panel

12 Genes

3-5 weeks Learn More
D4309 Albinism Panel

28 Genes

3-5 weeks Learn More
D4310 Alport Syndrome Panel

3 Genes

3-5 weeks Learn More
D4311 Bardet Biedl Panel

21 Genes

3-5 weeks Learn More
D4702 Pulmonary Fibrosis and Hermansky- Pudlak Syndrome Panel

16 Genes

3-5 weeks Learn More
Prioritized NGS-based testing with accelerated turn-around-times of 7 to 10 days.

Test Code Test Name Turn Around Time
D4300F STAT Microphthalmia/ Anophthalmia/ Coloboma Spectrum Panel

48 Genes

7 -10 days Learn More
D4301F STAT Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel

55 Genes

7 -10 days Learn More
D4302F STAT Achromatopsia, Cone, and Cone-rod Dystrophy Panel

36 Genes

7 -10 days Learn More
D4303F STAT Retinitis Pigmentosa Panel

66 Genes

7 -10 days Learn More
D4304F STAT Retina/ Photoreceptor Dystrophy Panel

121 Genes

7 -10 days Learn More
D4305F STAT Macular Dystrophy/ Degeneration/ Stargardt Disease Panel

15 Genes

7 -10 days Learn More
D4306F STAT Eye Disorders Comprehensive Panel

211 Genes

7 -10 days Learn More
D4307F STAT Flecked-retina Disorders Panel

6 Genes

7 -10 days Learn More
D4308F STAT Usher Syndrome Panel

12 Genes

7 -10 days Learn More
D4309F STAT Albinism Panel

28 Genes

7 -10 days Learn More
D4310F STAT Alport Syndrome Panel

3 Genes

7 -10 days Learn More
D4311F STAT Bardet Biedl Panel

21 Genes

7 -10 days Learn More
D4702F STAT Pulmonary Fibrosis and Hermansky- Pudlak Syndrome Panel

16 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

FAQs

The Ophthalmology 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 Ophthalmology panels are the same cost regardless of the number of genes ordered.

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.

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.

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.