TDRD7 Gene Cataract, Autosomal Recessive Congenital Type 4 NGS Genetic Test
Short Name: TDRD7 Cataract NGS
Also known as: TDRD7-related congenital cataract, Congenital cataract type 4, CTRCT4, Autosomal recessive congenital cataract-4
TDRD7 Gene Cataract, Autosomal Recessive Congenital Type 4 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger confirmation if required on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are issued in 3 to 4 weeks after sample receipt.. 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 purpose of this NGS test is to detect pathogenic disease-causing variants in the TDRD7 gene, confirm a clinical diagnosis of autosomal recessive congenital cataract type 4, guide family risk assessment, and support informed reproductive decision-making.
- Test Code
- 3788
- ICD Code
- Q12.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are issued in 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger confirmation if required
Sample Collection
No fasting is required. It is recommended that the patient or family undergo a genetic counseling session to draw a pedigree chart of family members affected with TDRD7 gene cataract.
Method: Venipuncture or FTA blood spot
Laboratory Analysis
A blood sample will be collected by venipuncture, or a drop of blood will be applied to an FTA card. The procedure is quick and generally painless.
Report Delivery
No special precautions are needed. The patient may resume normal activities immediately.
Timeline: Reports are issued in 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS test is to detect pathogenic disease-causing variants in the TDRD7 gene, confirm a clinical diagnosis of autosomal recessive congenital cataract type 4, guide family risk assessment, and support informed reproductive decision-making.
How to Prepare
- An online booking appointment is required for at-home sample collection.
- Please wear loose clothing in case a blood sample is needed.
- The FTA card must be air-dried and placed in the provided protective envelope.
- All samples must be labeled with the patient's name and unique ID.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"When a child is diagnosed with congenital cataract, a genetic cause must be excluded. An accurate genetic diagnosis helps families understand recurrence risk and plan future pregnancies."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample quantity
- Unlabeled or mislabeled sample
- FTA card stored in a wet or contaminated condition
- Missing or incomplete clinical history
Understanding Your Results
If a child has congenital cataract or a family history of autosomal recessive cataract, please consult a pediatric ophthalmologist and a clinical geneticist for a coordinated diagnostic and management plan.
Limitations
- ⚠This test does not detect all causes of congenital cataract.
- ⚠Large structural rearrangements, deep intronic variants, or copy number changes may not be captured by this targeted NGS assay.
- ⚠A variant of uncertain significance may require additional family studies.
- ⚠Result interpretation should always be correlated with clinical findings.
- ⚠This test is not intended for population screening.
Risks & Considerations
- ●Minimal bleeding or bruising at the needle site
- ●Dizziness or fainting during blood collection
- ●Hematoma at the venipuncture site
- ●Rare risk of infection at the needle site
- ●Emotional impact of unexpected genetic findings
Interfering Factors
- ●Clotted or hemolyzed blood sample
- ●DNA degradation due to improper transport or storage
- ●Incomplete or incorrect clinical history
- ●Genetic mosaicism may reduce detection sensitivity
- ●Samples with insufficient DNA quantity
Frequently Asked Questions
What is TDRD7 gene cataract?
What does the NGS genetic test for TDRD7 gene detect?
Who should consider this test?
What is the cost of the TDRD7 gene cataract NGS genetic test?
What sample is required for this test?
Is fasting required before the test?
How long will the report take?
Will I receive raw data files with the clinical report?
How is TDRD7-related congenital cataract inherited?
Can this test be used for prenatal diagnosis?
Are home sample collection services available?
How are test results interpreted?
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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.
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