ADAMTSL4 Gene Ectopia Lentis, Isolated, Autosomal Recessive NGS Genetic Test
Short Name: ADAMTSL4 Ectopia Lentis NGS Test
Also known as: ADAMTSL4 Ectopia Lentis Gene Test, Isolated Ectopia Lentis Genetic Test, ADAMTSL4 Mutation Analysis, Lens Subluxation Genetic Test, Autosomal Recessive Ectopia Lentis NGS Panel
ADAMTSL4 Gene Ectopia Lentis, Isolated, Autosomal Recessive NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation, Bioinformatics Variant Analysis on Blood samples. Results in Results are typically available within 3 to 4 weeks from the date of sample collection. Reports are delivered digitally via online portal, email, or WhatsApp.. 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 purpose of this test is to identify pathogenic or likely pathogenic mutations in the ADAMTSL4 gene that cause isolated, autosomal recessive ectopia lentis. It confirms a clinical diagnosis, differentiates ADAMTSL4-related ectopia lentis from syndromic causes such as Marfan syndrome, guides surgical and ophthalmological management, and enables carrier testing and genetic counselling for family members.
- Test Code
- 1476
- CPT Code
- 81479
- ICD Code
- Q12.1
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample collection. Reports are delivered digitally via online portal, email, or WhatsApp.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation, Bioinformatics Variant Analysis
Sample Collection
A genetic counselling session is recommended before sample collection. The counsellor will document the patient's clinical history and draw a detailed pedigree chart of family members affected with ectopia lentis or related ocular conditions. No fasting is required. Ensure the patient or legal guardian has provided informed consent for genetic testing.
Method: Venipuncture
Laboratory Analysis
A qualified phlebotomist will collect approximately 5 mL of venous blood using standard aseptic technique into an EDTA (lavender-top) vacutainer. The tube should be gently inverted 8 to 10 times immediately after collection to prevent clotting. The sample should be clearly labelled with the patient's full name, date of birth, and unique identification number.
Report Delivery
The blood sample should be stored at ambient room temperature and transported to the laboratory within 48 hours of collection. Avoid exposure to extreme heat or cold. The sample undergoes DNA extraction, library preparation, and NGS sequencing in the molecular genetics department. Results are typically available in 3 to 4 weeks.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample collection. Reports are delivered digitally via online portal, email, or WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic or likely pathogenic mutations in the ADAMTSL4 gene that cause isolated, autosomal recessive ectopia lentis. It confirms a clinical diagnosis, differentiates ADAMTSL4-related ectopia lentis from syndromic causes such as Marfan syndrome, guides surgical and ophthalmological management, and enables carrier testing and genetic counselling for family members.
How to Prepare
- No fasting or special preparation is required before the blood draw.
- A genetic counselling session should be completed prior to sample collection.
- Provide informed consent for genetic testing before the procedure.
- 5 mL of blood will be drawn into an EDTA lavender-top vacutainer.
- Keep the sample at ambient room temperature; do not freeze or refrigerate.
- Transport the sample to the laboratory within 48 hours of collection.
- Share complete family medical history and pedigree information with the genetic counsellor.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Ectopia lentis caused by ADAMTSL4 mutations is an important differential diagnosis in patients presenting with lens subluxation without systemic features of connective tissue disorders such as Marfan syndrome. Early genetic confirmation allows for appropriate surgical planning, genetic counselling for families, and surveillance for associated complications including glaucoma and retinal detachment. I recommend this test for any patient with isolated, bilateral lens displacement and a suggestive family pattern of autosomal recessive inheritance."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received in a clotted or haemolysed condition
- Insufficient blood volume (less than 2 mL)
- Sample without proper labelling or identification
- Sample collected in incorrect anticoagulant (non-EDTA tube)
- Sample received more than 7 days after collection at ambient temperature
- Missing or incomplete consent form for genetic testing
Understanding Your Results
One or two pathogenic or likely pathogenic variants identified in the ADAMTSL4 gene. Two variants in trans (one from each parent) confirm autosomal recessive ectopia lentis. A single pathogenic variant indicates carrier status. Clinical correlation with ophthalmological findings is recommended. Family member testing is advised.
Result type: Positive – Pathogenic Variant Detected
No pathogenic or likely pathogenic variants were identified in the ADAMTSL4 gene. This reduces the likelihood of ADAMTSL4-related ectopia lentis but does not exclude other genetic causes. Consider testing for FBN1, CBS, LTBP2, or other relevant genes if clinical suspicion persists.
Result type: Negative – No Pathogenic Variant Detected
A genetic variant was detected that has insufficient evidence to classify as pathogenic or benign at this time. Clinical correlation, family segregation studies, and periodic re-evaluation as new data become available are recommended. This result should not be used alone for clinical decision-making.
Result type: Variant of Uncertain Significance (VUS)
A single pathogenic variant was detected, consistent with carrier status for autosomal recessive ectopia lentis. Carriers are typically unaffected but can pass the variant to offspring. Genetic counselling is recommended to discuss reproductive implications and partner testing.
Result type: Carrier – Single Heterozygous Pathogenic Variant
Consult your ophthalmologist or clinical geneticist if you or your child experience lens displacement, blurred or double vision, unexplained high myopia, cataracts at a young age, or signs of glaucoma. If the genetic test returns a positive or VUS result, seek genetic counselling to understand the implications, management options, and family planning strategies. Urgent consultation is advised if there is sudden worsening of vision, eye pain, or redness, as these may indicate complications such as acute glaucoma or retinal detachment.
Limitations
- ⚠This test analyses only the ADAMTSL4 gene; it does not screen for mutations in other genes associated with ectopia lentis such as FBN1, CBS, or LTBP2.
- ⚠Deep intronic regulatory region variants outside the targeted sequencing regions may not be detected.
- ⚠Variants of uncertain significance (VUS) may be identified that cannot definitively confirm or exclude a diagnosis.
- ⚠This test does not detect balanced chromosomal rearrangements or trinucleotide repeat expansions.
- ⚠Results should always be interpreted in the context of clinical findings by a qualified geneticist or ophthalmologist.
Risks & Considerations
- ●Minimal risk associated with the blood draw, including slight bruising or discomfort at the venipuncture site
- ●Psychological impact of genetic diagnosis; counselling support is provided
- ●Risk of incidental findings or variants of uncertain significance that may cause anxiety
- ●Potential implications for insurance or employment; discuss with your genetic counsellor regarding genetic information privacy protections in your jurisdiction
Interfering Factors
- ●Degraded or insufficient DNA quality from the blood sample
- ●Recent blood transfusion within the past 30 days may affect results
- ●Haematological malignancies with circulating abnormal cells may interfere with DNA extraction
- ●Contamination of the sample during collection or transport
Compare With Similar Tests
| Test | ADAMTSL4 Gene Ectopia Lentis, Isolated, Autosomal Recessive NGS Genetic Test | FBN1 Gene Marfan Syndrome NGS Test | Comprehensive Ectopia Lentis Gene Panel | Whole Exome Sequencing (WES) |
|---|---|---|---|---|
| Comparison | ADAMTSL4 Gene Ectopia Lentis, Isolated, Autosomal Recessive NGS Genetic Test |
Frequently Asked Questions
What is the ADAMTSL4 Gene Ectopia Lentis NGS Genetic Test?
Who should get this genetic test?
What sample is required for the test?
How long does it take to get the results?
What is the cost of this test in India?
Is home sample collection available for this test?
How is ADAMTSL4-related ectopia lentis different from Marfan syndrome?
What happens if my test result is positive?
Can carrier parents have affected children?
Is this test suitable for prenatal or preconception screening?
Does a negative test result rule out ectopia lentis?
Is the ADAMTSL4 NGS genetic test NABL accredited?
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