RDH5 Gene Fundus Albipunctatus NGS Genetic Test
Short Name: RDH5 Fundus Albipunctatus NGS
Also known as: RDH5 Gene Sequencing, Fundus Albipunctatus Genetic Test, RDH5 Next Generation Sequencing Test
RDH5 Gene Fundus Albipunctatus 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 Reports are generally available within 3 to 4 weeks after the sample is received 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 this test is to identify clinically significant variants in the RDH5 gene and support a molecular diagnosis of RDH5-associated Fundus Albipunctatus. Testing may also clarify recurrence risk and guide genetic counselling for affected families.
- Test Code
- 3828
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are generally available within 3 to 4 weeks after the sample is received at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. The patient should carry any previous retinal imaging, electroretinography, or optical coherence tomography reports if available. A genetic counselling session may be scheduled to draw a family pedigree.
Method: Peripheral blood collection / FTA card spot / submitted DNA
Laboratory Analysis
A small amount of blood is collected in an EDTA tube, or an FTA card blood spot is prepared. The sample collection is quick and causes only a slight pricking sensation.
Report Delivery
No restrictions are needed. The patient can resume normal activities. The report will be available in 3 to 4 weeks after the sample is received.
Timeline: Reports are generally available within 3 to 4 weeks after the sample is received at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this test is to identify clinically significant variants in the RDH5 gene and support a molecular diagnosis of RDH5-associated Fundus Albipunctatus. Testing may also clarify recurrence risk and guide genetic counselling for affected families.
How to Prepare
- No fasting required
- Blood sample in EDTA tube, extracted DNA, or FTA card spot is accepted
- Ensure correct patient identification on the sample
- Clinical history and family pedigree must be provided
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"A detailed retinal examination and functional testing remain essential; genetic confirmation helps clarify the underlying cause and guides long-term visual prognosis and family counselling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample not labelled correctly
- Clotted or hemolyzed blood sample
- Insufficient quantity for DNA extraction
- Sample in non-EDTA anticoagulant
- Degraded DNA
Understanding Your Results
Pathogenic/Likely pathogenic variant detected
Molecular confirmation of RDH5-associated Fundus Albipunctatus is established. Genetic counselling and family screening are recommended.
Variant of uncertain significance detected
Diagnosis cannot be confirmed or excluded based on this variant alone. Additional family testing may help classify the variant.
No pathogenic variant detected
RDH5-associated Fundus Albipunctatus is less likely. Other inherited retinal dystrophy genes should be considered based on eye examination.
Consult an ophthalmologist or clinical geneticist if you have night blindness, progressive visual symptoms, or white-yellow retinal spots on examination.
Limitations
- ⚠Targeted RDH5 NGS may miss large rearrangements or deep intronic mutations.
- ⚠A negative result does not exclude Fundus Albipunctatus caused by variants in other genes.
- ⚠Variants of uncertain significance may require further family segregation analysis.
- ⚠Clinical correlation with ophthalmologic examination is necessary before final diagnosis.
Risks & Considerations
- ●Minimal pain at the blood draw site
- ●Small bruise at the puncture site
- ●No major risks associated with genetic testing
Interfering Factors
- ●Low-quality or degraded DNA
- ●Sample contamination during collection or processing
- ●Variants in genes other than RDH5 that cause similar retinal findings
- ●Rare genetic variants not covered by the targeted sequencing assay
- ●Patient identity or sample labelling errors
Compare With Similar Tests
| Test | RDH5 Gene Fundus Albipunctatus NGS Genetic Test | ||
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| Comparison | RDH5 Gene Fundus Albipunctatus NGS Genetic Test |
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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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✓ 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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