ADAMTSL4 Gene Ectopia Lentis Et Pupillae NGS Genetic Test
Short Name: ADAMTSL4 Ectopia Lentis Genetic Test
Also known as: ADAMTSL4 Gene Sequencing Test, Ectopia Lentis et Pupillae DNA Test, ADAMTSL4 Mutation Analysis, Lens and Pupil Displacement Genetic Test, ADAMTSL4 NGS Panel
ADAMTSL4 Gene Ectopia Lentis Et Pupillae NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Confirmation (if required) on Blood or Saliva samples. Results in Results are typically available within 3 to 4 weeks from the date of sample receipt 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 purpose of the ADAMTSL4 Gene Ectopia Lentis et Pupillae NGS Genetic Test is to identify pathogenic mutations in the ADAMTSL4 gene that cause ectopia lentis et pupillae. This test confirms the molecular diagnosis in individuals presenting with lens and pupil displacement, helps differentiate ELP from other systemic connective tissue disorders that cause ectopia lentis, guides clinical management and surgical planning, and enables carrier testing and prenatal counselling for at-risk family members.
- Test Code
- 1489
- CPT Code
- 81479
- ICD Code
- Q12.1
- Price
- ₹20,000
- Sample Type
- Blood or Saliva
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Confirmation (if required)
Sample Collection
No special preparation such as fasting is required. A genetic counselling session is recommended prior to sample collection to obtain informed consent, document clinical history, and draw a pedigree chart of family members affected with ectopia lentis et pupillae.
Method: Venipuncture or Saliva Collection
Laboratory Analysis
A blood sample (3-5 mL in EDTA lavender-top tube) is collected via standard venipuncture technique. Alternatively, a saliva sample may be collected using the provided saliva collection kit following the kit instructions.
Report Delivery
The sample is labelled, stored at ambient room temperature, and transported to the laboratory under controlled conditions. No post-collection restrictions apply to the patient.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the ADAMTSL4 Gene Ectopia Lentis et Pupillae NGS Genetic Test is to identify pathogenic mutations in the ADAMTSL4 gene that cause ectopia lentis et pupillae. This test confirms the molecular diagnosis in individuals presenting with lens and pupil displacement, helps differentiate ELP from other systemic connective tissue disorders that cause ectopia lentis, guides clinical management and surgical planning, and enables carrier testing and prenatal counselling for at-risk family members.
How to Prepare
- Ensure informed consent is obtained before sample collection
- Collect 3-5 mL of peripheral venous blood in an EDTA (lavender top) tube
- Alternatively, collect saliva using the DNA Labs India saliva collection kit
- Label the sample clearly with patient name, date of birth, and unique identifier
- Store the sample at ambient room temperature (15-25°C) until dispatch
- Transport the sample to the laboratory within 48 hours of collection
- Avoid haemolysed blood samples; re-collect if necessary
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Ectopia Lentis et Pupillae is a rare autosomal recessive condition most commonly linked to ADAMTSL4 gene mutations. Accurate molecular diagnosis through NGS is essential for confirming the condition, differentiating it from other causes of ectopia lentis such as Marfan syndrome or homocystinuria, and enabling appropriate family counselling. Early identification allows proactive monitoring for complications including glaucoma, retinal detachment, and progressive refractive errors."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received without proper labelling or patient identification
- Haemolysed, clotted, or insufficient blood sample
- Sample collected in incorrect container (e.g., heparin tube instead of EDTA)
- Sample received in leaking or damaged container
- Sample older than stability duration limits
- Missing signed consent form or requisition form
Understanding Your Results
No pathogenic or likely pathogenic variant was identified in the ADAMTSL4 gene. This reduces but does not entirely eliminate the possibility of a genetic aetiology, as mutations in other genes or undetectable rearrangements may be responsible.
Consider evaluation of other ectopia lentis-associated genes (FBN1, CBS, LTBP2, PAX6) and further ophthalmological assessment.
Result type: No Pathogenic Variant Detected
Two copies of the same pathogenic variant were identified in the ADAMTSL4 gene, consistent with autosomal recessive inheritance. This confirms the molecular diagnosis of Ectopia Lentis et Pupillae.
Diagnosis confirmed. Both parents are expected carriers. Genetic counselling for family planning is recommended. Siblings have a 25% chance of being affected.
Result type: Pathogenic Variant Detected (Homozygous)
Two different pathogenic or likely pathogenic variants were identified in the ADAMTSL4 gene on separate alleles, consistent with compound heterozygosity and autosomal recessive Ectopia Lentis et Pupillae.
Diagnosis confirmed. Each parent is expected to carry one of the two variants. Genetic counselling and cascade testing of family members is recommended.
Result type: Pathogenic Variant Detected (Compound Heterozygous)
A variant was detected in the ADAMTSL4 gene that cannot currently be classified as pathogenic or benign due to insufficient evidence in published literature and databases.
Further evaluation is needed including segregation analysis in affected and unaffected family members, functional studies, and periodic reclassification as new data become available. Clinical correlation is essential.
Result type: Variant of Uncertain Significance (VUS)
A single pathogenic variant in the ADAMTSL4 gene was detected in the heterozygous state. The individual is a carrier of Ectopia Lentis et Pupillae but is typically not clinically affected.
Carrier status confirmed. Carrier testing of the partner is recommended before family planning. Offspring have a 50% chance of being a carrier if the partner is not a carrier.
Result type: Carrier Status (Single Heterozygous Pathogenic Variant)
You should consult a qualified ophthalmologist or clinical geneticist if you or your child experiences symptoms such as displaced lens, irregular pupils, blurred vision, progressive myopia, or if there is a family history of ectopia lentis. A doctor can evaluate the clinical findings, recommend appropriate genetic testing, interpret the results in the context of overall health, and plan ongoing management including monitoring for glaucoma, cataracts, and retinal detachment.
Limitations
- ⚠This test detects single nucleotide variants (SNVs) and small insertions/deletions in the ADAMTSL4 gene only; it does not detect large deletions, duplications, or structural rearrangements unless specifically analysed
- ⚠Variants of Uncertain Significance (VUS) may be identified that cannot definitively confirm or exclude the diagnosis at the time of reporting
- ⚠This test does not evaluate mutations in other genes known to cause ectopia lentis, such as FBN1, CBS, LTBP2, or PAX6
- ⚠A negative result does not fully exclude a genetic basis for ectopia lentis if caused by mutations in other genes
- ⚠Results should always be interpreted in the context of clinical findings and family history by a qualified geneticist or ophthalmologist
Risks & Considerations
- ●Minor bruising or discomfort at the blood collection site
- ●Very low risk of infection at the venipuncture site
- ●Psychological impact of receiving genetic diagnostic information
- ●Possibility of identifying variants of uncertain significance that may cause anxiety
- ●Incidental findings are uncommon but possible in broad genetic analyses
Interfering Factors
- ●Degraded or insufficient DNA quality in the submitted sample
- ●Recent blood transfusion may affect DNA analysis results
- ●Contamination during sample collection or transport
- ●Presence of large structural rearrangements or copy number variants not detectable by standard NGS
- ●Limitations of probe design may result in incomplete coverage of certain genomic regions
Compare With Similar Tests
| Test | ADAMTSL4 Gene Ectopia Lentis Et Pupillae NGS Genetic Test | FBN1 Gene Marfan Syndrome NGS Genetic Test | CBS Gene Homocystinuria NGS Genetic Test | LTBP2 Gene Glaucoma and Ectopia Lentis NGS Genetic Test | Comprehensive Ectopia Lentis Gene Panel NGS Genetic Test |
|---|---|---|---|---|---|
| Comparison | ADAMTSL4 Gene Ectopia Lentis Et Pupillae NGS Genetic Test |
Frequently Asked Questions
What is the ADAMTSL4 Gene Ectopia Lentis et Pupillae NGS Genetic Test?
Who should consider taking the ADAMTSL4 genetic test?
What sample is required for this genetic test?
Does this test require fasting?
How much does the ADAMTSL4 genetic test cost in India?
How long does it take to get the results?
Is home sample collection available for this test?
What is Ectopia Lentis et Pupillae?
How is Ectopia Lentis et Pupillae different from Marfan syndrome?
Can this test be used for prenatal diagnosis?
What does a negative result mean?
Is genetic counselling required before taking this test?
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