RDH11 Gene Retinal dystrophy, juvenile cataracts, and short stature syndrome NGS Genetic Test
RDH11 Gene Retinal dystrophy, juvenile cataracts, and short stature syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. 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 identify mutations in the RDH11 gene for diagnosis of retinal dystrophy, juvenile cataracts, and short stature syndrome, enabling informed medical management and genetic counseling.
- Test Code
- 2783
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with the disorder.
Laboratory Analysis
Your sample is analyzed using NGS Technology in our laboratory.
Report Delivery
A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify mutations in the RDH11 gene for diagnosis of retinal dystrophy, juvenile cataracts, and short stature syndrome, enabling informed medical management and genetic counseling.
How to Prepare
- Blood sample: Collect in EDTA tube.
- Extracted DNA: Provide in sterile container.
- FTA Card: One drop of blood applied to the card.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of RDH11 gene disorder; genetic counseling recommended.
Negative for pathogenic variant
No mutations detected; clinical correlation advised.
Variant of uncertain significance
Further testing or family studies may be needed.
If symptoms such as vision loss, cataracts, or short stature are present, or if there is a family history of the disorder.
Frequently Asked Questions
What is RDH11 gene retinal dystrophy, juvenile cataracts, and short stature syndrome?
What are the common symptoms of this syndrome?
How is the disorder diagnosed?
What is the cost of the RDH11 Gene NGS Genetic Test?
Is home sample collection available for this test?
How long does it take to get the test results?
What sample types are accepted for the test?
Is genetic counseling required before testing?
Can this test be used for prenatal diagnosis?
What does a positive test result mean?
Are there any risks associated with the test?
How can I book the test at DNA Labs India?
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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.
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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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