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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
49 Genes |
2-3 weeks | |
D4303 | Retinitis Pigmentosa Panel
66 Genes |
2-3 weeks | |
D4304 | Retina/ Photoreceptor Dystrophy Panel
121 Genes |
3-5 weeks | |
D4305 | Macular Dystrophy/ Degeneration/ Stargardt Disease Panel
15 Genes |
2-3 weeks | |
D4306 | Eye Disorders Comprehensive Panel
211 Genes |
3-5 weeks | |
D4308 | Usher Syndrome Panel
14 Genes |
2-3 weeks | |
D4309 | Albinism Panel
28 Genes |
2-3 weeks | |
D4702 | Pulmonary Fibrosis and Hermansky- Pudlak Syndrome Panel
15 Genes |
2-3 weeks | |
D5200 | Cataract Panel
69 Genes |
2-3 weeks | |
D5207 | Congenital Stationary Night-Blindness Panel
12 Genes |
2-3 weeks | |
D5212 | Glaucoma Panel
38 Genes |
2-3 weeks | |
D5217 | Leber Congenital Amaurosis Panel
19 Genes |
2-3 weeks | |
D5228 | Vitreoretinopathy Panel
4 Genes |
2-3 weeks |
Test Code | Test Name | Turn Around Time | |
D4300F | STAT Microphthalmia/ Anophthalmia/ Coloboma Spectrum Panel
49 Genes |
7 -10 days | |
D4303F | STAT Retinitis Pigmentosa Panel
66 Genes |
7 -10 days | |
D4304F | STAT Retina/ Photoreceptor Dystrophy Panel
121 Genes |
7 -10 days | |
D4305F | STAT Macular Dystrophy/ Degeneration/ Stargardt Disease Panel
15 Genes |
7 -10 days | |
D4306F | STAT Eye Disorders Comprehensive Panel
211 Genes |
7 -10 days | |
D4308F | STAT Usher Syndrome Panel
14 Genes |
7 -10 days | |
D4309F | STAT Albinism Panel
28 Genes |
7 -10 days | |
D4702F | STAT Pulmonary Fibrosis and Hermansky- Pudlak Syndrome Panel
15 Genes |
7 -10 days |
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 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.
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.