Retinal Degeneration Gene Panel Test

This test scans a large number of genes known to be associated with inherited retinal conditions. The table below lists the key genes assessed and their significance.

Beyond identifying specific gene variants, the test classifies each finding as pathogenic, likely pathogenic, a variant of uncertain significance (VUS), or benign.

Preparing for this test is straightforward, but a few steps help ensure a reliable sample and a smooth experience.

Do You Need to Fast?

No fasting is required before this test. You may eat and drink as normal on the day of sample collection.

Practical Tips Before Your Test

Keep the following points in mind before attending your appointment:

• Bring a detailed clinical history, including your symptoms, previous eye examination reports, imaging results, and family history of eye conditions, as this is required for the test.
• Inform the laboratory of any prior genetic tests you have undergone.
• If providing a saliva sample, avoid eating, drinking, smoking, or chewing gum for at least 30 minutes beforehand.
• Attend a pre-test genetic counselling session to understand the scope, limitations, and implications of the test.
• Wear comfortable clothing with easy access to the forearm if a blood draw is needed.

Step-by-Step Procedure

This test accepts three sample types. The collection process for each is described below.

Peripheral Blood Sample:

1. A trained phlebotomist cleans the skin on your inner arm and draws a small blood sample (3 ml) into a lavender-topped EDTA tube.
2. The tube is labelled and stored at 2 to 8°C for transport to the laboratory.
3. DNA is extracted from the blood cells in the laboratory.

Chorionic Villus Sample (CVS):

1. A specialist collects a small tissue sample (30 mg) from the placenta using a thin needle or catheter, under imaging guidance, in a clinical setting.
2. The sample is placed in a sterile white container and kept refrigerated at 2 to 8°C during transport.
3. DNA is extracted from the tissue in the laboratory.

Amniotic Fluid Sample:

1. A specialist performs an amniocentesis procedure, drawing 20 ml of amniotic fluid using a thin needle inserted through the abdomen, under imaging guidance.
2. The fluid is collected in a dedicated Falcon tube (white) and stored at 2 to 8°C during transit.
3. DNA is isolated from cells present in the fluid.

For all sample types, the extracted DNA is then analysed using NGS methods. Results are reviewed by a clinical geneticist, and a report is prepared. The turnaround time is 35 days.

Factors That Can Affect Accuracy

Several factors can influence how complete or conclusive the results are:

• Poor DNA quality or insufficient sample volume
• Complex structural rearrangements (such as inversions or translocations) in the genome, which standard NGS may not detect
• Lower sequencing coverage in certain repetitive gene regions
• Genes not yet linked to retinal disease in the scientific literature will not be included in the panel

While genetic variants cannot be changed, the following general habits support eye health:

• Attend regular follow-up appointments with a retinal specialist to monitor any vision changes.
• Wear good-quality sunglasses outdoors to protect the eyes from UV exposure.
• Speak with your doctor about whether any nutritional supplements may be appropriate for your eye health.

Follow these steps to book your retinal degeneration gene panel test online:

1. Select the test on the Lupin Diagnostics website.
2. Choose your city and preferred centre location.
3. Visit the centre at your scheduled time for sample collection.
4. Receive your report via email or WhatsApp within the stipulated turnaround time.