Genetic Diagnostic Testing Service

Genetic Eye Disease Panel for Retinal Genes GEDI-R

Test Information:

226 genes currently known to be involved in inherited retinal degenerations and related disorders are analyzed by a combination of SureSelect targeted enrichment followed by Next Generation sequencing using an Illumina MiSeq instrument.  The coding regions and splice regions of these genes are examined.  Sanger sequencing is performed to confirm all clinically significant variants and when necessary to fill in regions of insufficient coverage.  

This testing will not detect large genomic structural rearrangements such as deletions, duplications, inversions and insertions.  Variants in non-coding regions which are outside of the splicing regions and not specifically targeted will not be analyzed.  Additionally, genetic variants present in genes not known to be associated with retinal degeneration may not be detected by this testing method.  Research-based testing is available for detecting these types of genetic alterations.

Please review the below information on specimen requirements, shiping and pricing for diagnostic testing.

Specimen Requirements:

Blood Specimens: Blood is the preferred specimen type of testing.

  • Volume for children: 2-5 mL whole sterile blood collected in EDTA (lavender top) tube. 
  •  Volume for adults: 3-10 mL whole sterile blood collected in EDTA (lavender top) tube
  • Labeling: Tubes should be labeled with the patient’s name, date of birth and/or ID.
  • Shipping: Specimens should be shipped at room temperature and by overnight delivery with arrival Monday-Friday.  Samples should be received 48 hours of collection.  NO WEEKEND DELIVERY. Sample can be refrigerated before shipping. DO NOT FREEZE BLOOD. In hot weather, a cool pack can be used.  Shipping costs are the responsibility of the sender. 

Samples should be shipped to the following:

                        Ocular Genomics Diagnostic Laboratory

                        Massachusetts Eye and Ear Infirmary

                        243 Charles Street, Room 566A

                        Boston, MA 02114

Ordering Testing:

Genetic testing can only be ordered by a medical professional

Please complete the Test Requisition. This completed form MUST accompany all specimens. The Test Requisition is the following:

  1.  Patient, testing and sample information (Pages 1-2)
  2. Consent form (page 3)
  3. Billing information (page 4)

 A specimen cannot be processed without a completed requisition form 

Turn-around-time is within 90 days.


GEDI-R $2500.00; when possible samples from parents are requested to be submitted with the proband’s sample to assist with interpretation and confirmation of the proband’s results.  There is no additional charge for this testing of parental samples.

Please provide your insurance with the CPT code 81479 when determining coverage and eligibility.

CLIA Certification Number: 22D1037777  

Technical Information:

Methodology: Targets Capture followed by Massively Parallel Sequencing



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