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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.
- 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.
Ophthalmology Testing Options
| 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 |
| 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.
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.