SIL1 Gene Cataract, Congenital, Associated with Marinesco-Sjogren Syndrome NGS Genetic Test
Short Name: SIL1 Gene MSS NGS
Also known as: SIL1 Gene Mutation Test, Marinesco-Sjogren Syndrome NGS Test, Congenital Cataract Genetic Test SIL1
SIL1 Gene Cataract, Congenital, Associated with Marinesco-Sjogren Syndrome 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 available within 3 to 4 weeks from the date of sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this NGS genetic test is to detect disease-causing sequence variants in the SIL1 gene to confirm a clinical diagnosis of Marinesco-Sjogren Syndrome in individuals with congenital cataracts, ataxia, muscle weakness, and developmental delay. It also provides information for genetic counseling, recurrence risk assessment, and family planning.
- Test Code
- 3794
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are available within 3 to 4 weeks from the date of sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting required. A genetic counseling session is recommended to collect clinical history and draw a pedigree chart of family members affected with the condition.
Method: Venipuncture or FTA Card blood spot
Laboratory Analysis
A small blood sample is collected by venipuncture, or a few drops of blood are placed on the FTA card as directed by the laboratory.
Report Delivery
No activity restrictions are required. The sample should be transported according to laboratory instructions, and reports are usually available within 3 to 4 weeks.
Timeline: Reports are available within 3 to 4 weeks from the date of sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect disease-causing sequence variants in the SIL1 gene to confirm a clinical diagnosis of Marinesco-Sjogren Syndrome in individuals with congenital cataracts, ataxia, muscle weakness, and developmental delay. It also provides information for genetic counseling, recurrence risk assessment, and family planning.
How to Prepare
- No fasting is needed for this test.
- Complete the clinical history and consent forms.
- Inform the lab about family history and any previous genetic testing.
- For FTA card, apply blood to the marked circles and air dry for at least 30 minutes before packaging.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic confirmation of a SIL1 pathogenic variant allows accurate recurrence risk counseling, early surveillance, and family planning. A positive result should always be interpreted by a clinical geneticist."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted blood sample
- Incorrectly labelled sample
- Inadequate sample volume
- Sample leaking in transit
- FTA card not dried before packaging
Understanding Your Results
Pathogenic variant in SIL1
Confirms a diagnosis of Marinesco-Sjogren Syndrome; genetic counseling and family testing are recommended.
Likely pathogenic variant in SIL1
Highly consistent with the diagnosis; additional family testing is advised.
Variants of uncertain significance (VUS)
Does not confirm or exclude MSS; family segregation and functional studies may help clarify.
No pathogenic variant detected
Reduces but does not exclude SIL1-related disease; other genetic causes of congenital cataract should be considered.
If congenital cataract is diagnosed in a child with hypotonia, ataxia, muscle weakness, or developmental delay, consult a clinical geneticist, ophthalmologist, or paediatric neurologist for genetic evaluation.
Limitations
- ⚠NGS may not detect large structural rearrangements, deep intronic variants, or trinucleotide repeat expansions
- ⚠A variant of uncertain significance does not confirm or exclude the diagnosis
- ⚠A negative result does not completely exclude SIL1-related disease if clinical suspicion is high
- ⚠Results should be interpreted in the context of clinical findings and family history
Risks & Considerations
- ●Minimal risk of pain, bruising, or bleeding at the needle site
- ●Possible psychological or emotional distress from receiving genetic results
Interfering Factors
- ●Recent allogeneic bone marrow transplantation can affect blood-based DNA results
- ●Maternal cell contamination in perinatal samples
- ●Low-quality or degraded DNA
- ●Sample mislabelling or sample mix-up
Frequently Asked Questions
What is the cost of this test?
What sample is accepted for this test?
Is fasting required before sample collection?
How long will the reports take?
Which doctor should I consult for this test?
What is Marinesco-Sjogren Syndrome?
Does a negative result completely rule out Marinesco-Sjogren Syndrome?
What does a variant of uncertain significance mean?
Will I receive raw data and VCF files?
Is genetic counseling included?
Can children have this test?
Is this test covered under government health schemes?
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₹20,000Reference Laboratory Services
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