PRPH2 Gene Choroidal Dystrophy, Central Areolar Type 2 NGS Genetic Test
Short Name: PRPH2 CACD2 NGS Genetic Test
Also known as: CACD2 Genetic Test, PRPH2 Gene Sequencing, PRPH2-related Retinal Dystrophy NGS Test
PRPH2 Gene Choroidal Dystrophy, Central Areolar Type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks after the sample is received by the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To detect pathogenic or likely pathogenic variants in the PRPH2 gene, supporting a molecular diagnosis of central areolar choroidal dystrophy type 2 and enabling accurate genetic counselling.
- Test Code
- 3801
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks after the sample is received by the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Pre-test genetic counselling is recommended. Clinical history of the patient and a pedigree chart of affected family members should be documented. No fasting is required.
Method: Peripheral blood draw or dried blood spot on FTA card
Laboratory Analysis
A small blood sample is collected in an EDTA tube, or one drop of blood is placed on an FTA card if using the dried blood spot method. The collection is quick and minimally invasive.
Report Delivery
You can resume normal daily activities immediately after sample collection. The sample is sent for NGS analysis and the report is expected in 3 to 4 weeks.
Timeline: 3 to 4 weeks after the sample is received by the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
To detect pathogenic or likely pathogenic variants in the PRPH2 gene, supporting a molecular diagnosis of central areolar choroidal dystrophy type 2 and enabling accurate genetic counselling.
How to Prepare
- If using blood sample, collect in an EDTA vacutainer as per the test kit.
- If using FTA card, apply one drop of blood onto the marked circle and allow it to dry completely.
- Clearly label the sample tube or FTA card with the patient's name, date of birth and collection date.
- Transport the sample at room temperature to the laboratory within the time specified in the collection kit.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"If central vision loss occurs with macular changes and there is a family history of retinal dystrophy, PRPH2 genetic testing can confirm the diagnosis and support recurrence-risk counselling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
- Haemolysed or clotted sample if DNA extraction fails
- Incorrectly labelled sample or missing consent form
- FTA card received wet, contaminated or improperly dried
Understanding Your Results
Negative
No pathogenic or likely pathogenic PRPH2 variant was detected. Other inherited or acquired causes should be considered if clinical suspicion remains high.
Positive - Heterozygous
A pathogenic or likely pathogenic PRPH2 variant was detected. This is consistent with autosomal dominant PRPH2-related disease such as CACD2.
Variant of Uncertain Significance
A PRPH2 variant was found, but its clinical significance is not yet established. Additional family member testing and clinical correlation are required.
If you have progressive central vision loss, unexplained macular atrophy, or a known family history of PRPH2-related retinal disease, consult an ophthalmologist and a genetics specialist or counsellor.
Limitations
- ⚠This NGS test primarily examines PRPH2 gene variants and is not a whole-genome analysis.
- ⚠NGS may not reliably detect all large structural rearrangements, deep intronic variants or variants in regions with poor coverage.
- ⚠A variant of uncertain significance may require additional family studies.
- ⚠A negative result does not exclude all inherited retinal or choroidal dystrophies.
Risks & Considerations
- ●Standard blood draw may cause mild pain, bruising or swelling at the puncture site.
- ●Possible psychological impact of learning a genetic risk or diagnosis; genetic counselling is advised.
Interfering Factors
- ●Allogeneic stem cell transplantation can lead to donor-derived DNA in blood; a non-hematopoietic tissue sample may be needed in such cases.
- ●Inadequate sample quality or DNA degradation can affect NGS results.
- ●Rare technical artifacts may require confirmation by Sanger sequencing.
Compare With Similar Tests
| Test | PRPH2 Gene Choroidal Dystrophy, Central Areolar Type 2 NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | PRPH2 Gene Choroidal Dystrophy, Central Areolar Type 2 NGS Genetic Test |
Frequently Asked Questions
What is PRPH2 gene choroidal dystrophy central areolar type 2?
What does this NGS genetic test detect?
What sample is required for the test?
Is fasting required before this genetic test?
How much does the PRPH2 CACD2 NGS test cost?
How long will the test reports take?
Will I receive raw data files along with the report?
Is home sample collection available?
Who should consider this test?
What is the inheritance pattern of CACD2?
Can a negative result exclude all inherited eye diseases?
How will I receive the test report?
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