SORD Gene Cataract, Congenital NGS Genetic Test
Short Name: SORD Congenital Cataract NGS
Also known as: SORD gene mutation analysis, Sorbitol dehydrogenase gene test, Congenital cataract SORD genetic test
SORD Gene Cataract, Congenital 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 Results are generally available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify pathogenic or likely pathogenic variants in the SORD gene in an individual clinically suspected to have congenital cataract. It also helps distinguish SORD-related cataract from other inherited forms, provides information for genetic counselling, and assists in determining the recurrence risk for parents who wish to plan another child.
- Test Code
- 3792
- ICD Code
- Q12.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or one drop Blood on FTA Card
- Result Time
- Results are generally available within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Clinical history of the patient who is going for SORD Gene Cataract, Congenital NGS Genetic Test. A genetic counselling session is recommended to draw a pedigree chart of family members affected with SORD Gene Cataract, Congenital NGS Genetic Test gene SORD.
Method: Venipuncture or FTA card blood spot
Laboratory Analysis
A small amount of blood is collected by a trained phlebotomist in an EDTA tube, or a single drop of blood is placed on an FTA card. The procedure is quick and causes minimal discomfort.
Report Delivery
No special precautions are required after sample collection. The sample is transported to the laboratory for NGS analysis. The patient is advised to wait for 3 to 4 weeks for the report and to schedule a follow-up predictive counselling session.
Timeline: Results are generally available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the SORD gene in an individual clinically suspected to have congenital cataract. It also helps distinguish SORD-related cataract from other inherited forms, provides information for genetic counselling, and assists in determining the recurrence risk for parents who wish to plan another child.
How to Prepare
- No fasting is required for this test.
- Whole blood must be collected in an EDTA lavender-top tube.
- If using an FTA card, one full blood spot is sufficient and the card must be air-dried before packing.
- Extracted DNA samples should be labelled with patient details and a unique barcode.
- Inform the laboratory if the patient has received a bone marrow transplant or blood transfusion within the last three months.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"In children with congenital cataract, genetic testing is useful to identify inherited causes. Early detection and surgical intervention can help prevent amblyopia and improve visual outcomes."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Unlabelled or mislabelled sample
- Leaking or broken sample container
- Clotted blood in EDTA tube
- Insufficient sample quantity
- Sample received in a fixative or transport medium containing formalin
Understanding Your Results
Pathogenic variant detected
Confirms the molecular diagnosis of SORD-related congenital cataract. Predictive testing and family screening should be offered.
Action: Genetic counselling and ophthalmology follow-up
Likely pathogenic variant detected
Highly suggestive of a molecular cause but may require additional clinical or family correlation.
Action: Correlate with phenotype and consider familial testing
Variant of uncertain significance
Inconclusive result. Further studies such as segregation analysis or functional studies are needed.
Action: Follow-up genetic counselling and additional testing if appropriate
No pathogenic mutation detected
No SORD gene mutation was identified by this test. Other genetic or non-genetic causes may still be responsible.
Action: Consider broader congenital cataract genetic panel or further evaluation
Benign/likely benign variant detected
The detected variant is not considered causative for the patient's congenital cataract.
Action: Continue clinical management based on ophthalmological findings
Consult an ophthalmologist if a child has clouding of the lens, poor visual fixation, abnormal eye movements, light sensitivity, squint, or a family history of congenital cataract. After clinical examination, a geneticist or referring physician can recommend SORD gene NGS testing.
Limitations
- ⚠This test is a single-gene NGS test and does not evaluate all genes associated with congenital cataract.
- ⚠Standard NGS may not reliably detect large structural rearrangements or deep intronic variants.
- ⚠A negative result does not exclude all possible SORD gene mutations.
- ⚠A variant of uncertain significance may require additional family studies and clinical correlation.
- ⚠The test should not be used as a substitute for a comprehensive eye examination.
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site
- ●No genetic risk to the patient from the test itself
- ●Possible psychological impact of a predictive genetic result
Interfering Factors
- ●Low-quality or degraded DNA sample
- ●Insufficient DNA concentration
- ●PCR contamination during handling
- ●Large deletions or insertions that may not be detected by standard NGS
- ●Maternal cell contamination in cord blood
- ●Recent allogeneic bone marrow transplant leading to mixed DNA profiles
Compare With Similar Tests
| Test | SORD Gene Cataract, Congenital NGS Genetic Test | ||
|---|---|---|---|
| Comparison | SORD Gene Cataract, Congenital NGS Genetic Test |
Frequently Asked Questions
What is the SORD Gene Cataract, Congenital NGS Genetic Test?
How much does this test cost at DNA Labs India?
What sample is needed for this test?
Is fasting required before the SORD gene test?
When will I get the report?
Is home sample collection available?
What mutations does the NGS test detect?
Who should have this test?
What is the difference between a genetic report and raw data?
Will a negative result completely rule out congenital cataract?
Does insurance cover this test?
Why is genetic counselling recommended before the test?
Related Tests
Leber's Hereditary Optic Neuropathy (LHON) Mitochondrial Mutation Detection Test
₹25,000Nx Gen Sequencing: Glaucoma Test
₹28,665Nx Gen Sequencing: Corneal Dystrophy Test
₹28,665Nx Gen Sequencing: Leber Congenital Amaurosis Test
₹28,665Nx Gen Sequencing: Optic Atrophy Test
₹28,665GPR143 Gene Albinism, Ocular Type I, Nettleship-Falls Type 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.