TSPAN12 Gene Exudative Vitreoretinopathy Type 5 NGS Genetic Test
Short Name: TSPAN12 EVR5 NGS Test
Also known as: TSPAN12 Mutation Analysis, EVR Type 5 Genetic Test, Familial Exudative Vitreoretinopathy Type 5 DNA Test, TSPAN12 Gene Sequencing, FEVR Type 5 NGS Test
TSPAN12 Gene Exudative Vitreoretinopathy Type 5 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Confirmation of Variants, Bioinformatics Pipeline Analysis on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in 3 to 4 Weeks from sample receipt at the laboratory. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The primary purpose of the TSPAN12 Gene EVR Type 5 NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the TSPAN12 gene to confirm a clinical diagnosis of exudative vitreoretinopathy type 5. This test is used for diagnostic confirmation in symptomatic individuals, presymptomatic testing in at-risk family members, carrier detection in autosomal recessive cases, and to support genetic counselling regarding recurrence risk and family planning.
- Test Code
- 1492
- CPT Code
- 81479
- ICD Code
- H35.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks from sample receipt at the laboratory
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Confirmation of Variants, Bioinformatics Pipeline Analysis
Sample Collection
Ensure the patient or guardian has provided informed consent. Verify clinical history and family pedigree have been documented. No fasting is required for this test.
Method: Venipuncture or FTA Card blood spot
Laboratory Analysis
A qualified phlebotomist will collect 3-5 mL of venous blood in an EDTA tube or obtain a blood spot on an FTA card. The sample is labelled with patient details and stored at ambient room temperature until dispatch.
Report Delivery
The sample is transported to the DNA Labs India testing facility under controlled ambient conditions. DNA extraction, library preparation, and NGS sequencing are performed by trained molecular geneticists. Results are typically available in 3 to 4 weeks.
Timeline: 3 to 4 Weeks from sample receipt at the laboratory
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the TSPAN12 Gene EVR Type 5 NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the TSPAN12 gene to confirm a clinical diagnosis of exudative vitreoretinopathy type 5. This test is used for diagnostic confirmation in symptomatic individuals, presymptomatic testing in at-risk family members, carrier detection in autosomal recessive cases, and to support genetic counselling regarding recurrence risk and family planning.
How to Prepare
- No fasting or special preparation is required
- Collect 3-5 mL venous blood in an EDTA (lavender top) vacutainer or apply one drop of blood to an FTA card
- Ensure proper labelling of the sample with patient name, date of birth, and unique identifier
- Store the sample at ambient room temperature (15-30°C) before dispatch
- Transport the sample to the laboratory within 48 hours of collection
- A genetic counselling session is recommended prior to sample collection to discuss implications
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"TSPAN12 gene mutations are a recognized cause of familial exudative vitreoretinopathy type 5. Genetic confirmation through NGS allows for accurate diagnosis, family screening, and appropriate surveillance for retinal complications. Early identification of at-risk family members is critical for preventing progressive vision loss through timely ophthalmic intervention."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted blood sample
- Severely hemolyzed sample
- Insufficient sample volume (less than 1 mL)
- Sample with mismatched or missing patient identification
- Sample collected in incorrect tube type (e.g., heparin tube instead of EDTA)
- Sample contaminated or improperly stored
Understanding Your Results
Confirms a genetic diagnosis of exudative vitreoretinopathy type 5. Genetic counselling is recommended for the patient and family members. Surveillance and early intervention for retinal complications should be discussed with the treating ophthalmologist.
Strong evidence supports a diagnosis of EVR type 5. Clinical correlation and family segregation studies are recommended for confirmation. Genetic counselling is advised.
A variant was identified but current evidence is insufficient to determine its clinical significance. This result is non-diagnostic. Periodic reanalysis and family studies may help clarify the variant's role. Clinical management should be based on ophthalmic findings.
The detected variant(s) are not expected to cause EVR type 5. These are considered normal genetic variation and do not confirm a genetic diagnosis. Clinical evaluation for other causes should be considered.
No disease-causing mutations were identified in the TSPAN12 gene. This does not completely exclude a genetic basis for EVR as mutations in other genes (NDP, FZD4, LRP5, ZNF408, KIF11) can cause similar phenotypes. Further genetic evaluation or a broader retinal gene panel may be considered.
Consult your ophthalmologist or clinical geneticist if you or your family members experience symptoms such as blurred or distorted vision, floaters, loss of peripheral or central vision, night blindness, or if there is a known family history of exudative vitreoretinopathy or retinal detachment. Early evaluation is essential for preventing progressive vision loss.
Limitations
- ⚠This test is limited to the TSPAN12 gene and does not screen for mutations in other EVR-associated genes (NDP, FZD4, LRP5, ZNF408, KIF11)
- ⚠Deep intronic mutations, regulatory region variants, and large structural rearrangements may not be fully detected
- ⚠Variants of uncertain significance (VUS) may be identified and require periodic reinterpretation as new data emerges
- ⚠This test does not assess for acquired retinal conditions or non-genetic causes of exudative vitreoretinopathy
- ⚠A negative result does not completely exclude a genetic basis for EVR if mutations exist in other causative genes
Risks & Considerations
- ●Minimal risk associated with blood collection: minor bruising, discomfort, or lightheadedness at the puncture site
- ●Psychological impact of genetic results including anxiety or distress; genetic counselling is recommended before and after testing
- ●Potential identification of variants of uncertain significance (VUS) which may cause confusion without proper counselling
- ●Genetic test results may have implications for insurance, employment, or family dynamics; appropriate counselling should be provided
Interfering Factors
- ●Degraded DNA from improperly stored or old blood samples may affect sequencing quality
- ●Recent blood transfusions within the past 4 weeks may lead to mixed DNA profiles
- ●Presence of somatic mosaicism may result in low-level variants below the detection threshold
- ●Hemolyzed or clotted blood samples may reduce DNA yield and affect test accuracy
Compare With Similar Tests
| Test | TSPAN12 Gene Exudative Vitreoretinopathy Type 5 NGS Genetic Test | Single Gene TSPAN12 Sequencing (Sanger) | Comprehensive FEVR Gene Panel (NDP, FZD4, LRP5, TSPAN12, ZNF408, KIF11) | Whole Exome Sequencing (WES) |
|---|---|---|---|---|
| Comparison | TSPAN12 Gene Exudative Vitreoretinopathy Type 5 NGS Genetic Test |
Frequently Asked Questions
What is the TSPAN12 Gene Exudative Vitreoretinopathy Type 5 NGS Genetic Test?
What is Exudative Vitreoretinopathy (EVR) Type 5?
What symptoms indicate the need for this genetic test?
What sample is required for the TSPAN12 EVR5 NGS Genetic Test?
How much does the TSPAN12 Gene EVR Type 5 NGS Genetic Test cost in India?
How long does it take to get the results?
Is the TSPAN12 EVR5 genetic test accurate?
What happens if the test finds a variant of uncertain significance (VUS)?
Can this test be done for children or newborns?
Does DNA Labs India provide raw data and variant files with the test report?
Is home sample collection available for this test?
What should I do if my test result is positive for a TSPAN12 mutation?
Related Tests
Nx Gen Sequencing: Usher Syndrome Test
₹28,665Nx Gen Sequencing: Retinitis Pigmentosa Test
₹20,000PDE6H Gene Achromatopsia Type 6 NGS Genetic Test
₹20,000CACNA1F Gene Aland Island Eye Disease NGS Genetic Test
₹20,000TGFBI Gene Corneal Dystrophy, Epithelial Basement Membrane NGS Genetic Test
₹20,000ADAMTSL4 Gene Ectopia Lentis Et Pupillae NGS Genetic Test
₹20,000Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
Book Your Test
Enter your details and we'll connect you within 15 minutes.