FYCO1 Gene Cataract, Autosomal Recessive Congenital Type 2 NGS Genetic Test
Short Name: FYCO1 Cataract NGS Test
Also known as: FYCO1-related cataract, Congenital cataract type 2 (CTRCT2) NGS test, Autosomal recessive congenital cataract NGS panel
FYCO1 Gene Cataract, Autosomal Recessive Congenital Type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are delivered within 3 to 4 weeks from sample receipt at the laboratory. Urgent processing may be available upon request.. 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 confirm the diagnosis of autosomal recessive congenital cataract type 2 caused by mutations in the FYCO1 gene also known as CTRCT2. It is indicated in individuals with early-onset cataracts, particularly with family history suggestive of recessive inheritance. The test identifies pathogenic variants in the FYCO1 gene using NGS technology and helps in genetic counselling, recurrence risk assessment, and management decisions.
- Test Code
- 3785
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered within 3 to 4 weeks from sample receipt at the laboratory. Urgent processing may be available upon request.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation
Sample Collection
No special preparation is required. Please carry any previous medical records or eye examination reports. A genetic counseling session prior to testing is recommended.
Method: Peripheral venous blood draw or FTA card blood spot
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist using standard venipuncture technique. For FTA card, a few drops of blood are placed on the designated paper card.
Report Delivery
No restrictions. You can resume normal activities immediately after sample collection.
Timeline: Reports are delivered within 3 to 4 weeks from sample receipt at the laboratory. Urgent processing may be available upon request.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm the diagnosis of autosomal recessive congenital cataract type 2 caused by mutations in the FYCO1 gene also known as CTRCT2. It is indicated in individuals with early-onset cataracts, particularly with family history suggestive of recessive inheritance. The test identifies pathogenic variants in the FYCO1 gene using NGS technology and helps in genetic counselling, recurrence risk assessment, and management decisions.
How to Prepare
- For blood: Use EDTA vacutainer and store at 2-8°C if shipping.
- For FTA card: Allow blood spot to air dry completely before placing in the provided envelope.
- For extracted DNA: Ship in a sterile DNase-free tube at 4°C or frozen.
- Label the sample with patient name, date of birth, and collection date.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Congenital cataract is a clinically and genetically heterogeneous condition. Early genetic confirmation in autosomal recessive congenital cataract due to FYCO1 variants is important for accurate genetic counselling, prognosis, and family planning. This NGS test offers a reliable molecular diagnosis in a single assay."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Haemolysed blood sample
- Clotted blood in EDTA tube
- Incorrectly labelled sample
- Sample without clinical history or consent
- Sample received in formalin or other fixative
Understanding Your Results
No pathogenic variant detected
FYCO1-related cataract is unlikely; consider other genetic or non-genetic causes.
Pathogenic or likely pathogenic variant (homozygous/compound heterozygous)
Confirms diagnosis of autosomal recessive congenital cataract type 2.
Pathogenic or likely pathogenic variant (heterozygous single variant)
Carrier state confirmed; needs further evaluation for a second variant if autosomal recessive inheritance suspected.
Variant of uncertain significance (VUS)
Result inconclusive; recommend additional testing and family segregation analysis.
Consult an ophthalmologist and a clinical geneticist if your child has congenital cataracts or if you have a family history of genetic cataract. Genetic counseling is advised before and after the test to understand recurrence risks and management.
Limitations
- ⚠This test detects variants in the FYCO1 gene only; large deletions/duplications may not be detected by standard NGS unless copy number variant analysis is included.
- ⚠Variants in non-coding regulatory regions may not be fully covered.
- ⚠Pathogenic variants in other genes causing congenital cataract will not be identified by this targeted test.
- ⚠Genetic counseling is recommended before and after testing.
Risks & Considerations
- ●The test is performed on a blood sample; the only risk is minimal bruising at the needle site.
- ●No significant physical risks are associated with this genetic test.
- ●Potential psychological impact of test results
- ●Results may have implications for blood relatives
Interfering Factors
- ●Contaminated or degraded DNA
- ●Blood sample received after prolonged storage
- ●Presence of maternal cell contamination in fetal/pediatric samples
- ●Incomplete clinical information may affect interpretation
Compare With Similar Tests
| Test | FYCO1 Gene Cataract, Autosomal Recessive Congenital Type 2 NGS Genetic Test | FYCO1 Gene NGS Test at DNA Labs India | Conventional Sanger FYCO1 Test |
|---|---|---|---|
| Comparison | FYCO1 Gene Cataract, Autosomal Recessive Congenital Type 2 NGS Genetic Test |
Frequently Asked Questions
What is the cost of the FYCO1 gene cataract NGS genetic test at DNA Labs India?
Which sample is required for this FYCO1 gene test?
Is fasting required before sample collection?
How long does it take to get the test report?
What is the purpose of this FYCO1 gene NGS test?
Which diseases are associated with the FYCO1 gene?
What are the symptoms of FYCO1 gene cataract?
Will I receive the raw data, FASTQ and VCF files?
Do you offer home sample collection?
What is the genetic inheritance pattern for FYCO1 cataract?
Why is genetic counselling recommended before this test?
How can I book this FYCO1 gene NGS test at DNA Labs India?
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