NLRP1 Gene Corneal Intraepithelial Dyskeratosis and Ectodermal Dysplasia NGS Genetic Test
Short Name: NLRP1 Gene NGS Test
Also known as: NLRP1 Mutation Analysis, NLRP1 Gene Sequencing Test, Corneal Intraepithelial Dyskeratosis Genetic Panel, Ectodermal Dysplasia NGS Panel, NLRP1 Related Autoinflammatory Disorder Test
NLRP1 Gene Corneal Intraepithelial Dyskeratosis and Ectodermal Dysplasia NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Bioinformatics Analysis, Variant Classification (ACMG Guidelines) on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in 3 to 4 Weeks from 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 primary purpose of this test is to identify pathogenic or likely pathogenic mutations in the NLRP1 gene responsible for corneal intraepithelial dyskeratosis and ectodermal dysplasia. Confirmation of the genetic diagnosis enables accurate clinical management, targeted ophthalmic and dermatological treatment, genetic counselling for family members, informed reproductive decisions, and participation in disease-specific research or clinical trials.
- Test Code
- 1487
- CPT Code
- 81479
- ICD Code
- Q82.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks from sample receipt at the laboratory
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Bioinformatics Analysis, Variant Classification (ACMG Guidelines)
Sample Collection
A pre-test genetic counselling session is recommended to document detailed clinical history and construct a pedigree chart of affected family members. No fasting is required. Ensure the patient or guardian has provided informed consent for genetic testing.
Method: Venipuncture / Finger prick (FTA card)
Laboratory Analysis
A 3–5 mL peripheral venous blood sample is collected in an EDTA (lavender top) vacutainer. Alternatively, a finger-prick blood sample may be deposited on an FTA card. Proper labelling with patient identifiers is essential.
Report Delivery
The sample is transported to the laboratory at ambient room temperature. Results are delivered within 3 to 4 weeks. Genetic counselling post-test is recommended for interpretation of results and discussion of implications.
Timeline: 3 to 4 Weeks from sample receipt at the laboratory
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this test is to identify pathogenic or likely pathogenic mutations in the NLRP1 gene responsible for corneal intraepithelial dyskeratosis and ectodermal dysplasia. Confirmation of the genetic diagnosis enables accurate clinical management, targeted ophthalmic and dermatological treatment, genetic counselling for family members, informed reproductive decisions, and participation in disease-specific research or clinical trials.
How to Prepare
- Collect 3–5 mL venous blood in an EDTA (Lavender Top) vacutainer or use one drop of blood on an FTA card
- Label the sample accurately with the patient's full name, date of birth, and unique sample ID
- Ensure proper chain of custody documentation is completed
- Transport the sample at ambient room temperature; avoid extreme heat or cold exposure
- If using an extracted DNA sample, ensure a minimum concentration of 20 ng/µL and A260/A280 ratio of 1.8–2.0
- No fasting or special preparation is required prior to sample collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Corneal intraepithelial dyskeratosis associated with NLRP1 mutations presents with progressive corneal clouding, reduced tear production, and photophobia. Early genetic diagnosis enables targeted ophthalmic management, preventive corneal care, and screening of at-risk family members. Patients should be evaluated for associated ectodermal features including dental anomalies, nail dystrophy, and skin changes for a comprehensive multidisciplinary care plan."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Haemolysed, clotted, or insufficient sample volume
- Incorrectly labelled or unlabeled samples
- Samples collected in incorrect anticoagulant (e.g., heparin tubes)
- Samples older than stability limits without prior arrangement
- Absence of signed informed consent form
Understanding Your Results
Confirms a genetic diagnosis of NLRP1-related disorder. Correlate with clinical features. Recommend genetic counselling, family cascade screening, and multidisciplinary management involving ophthalmology, dermatology, and dentistry.
Strong evidence supporting disease association. Clinical correlation is advised. Segregation analysis in family members may help confirm pathogenicity.
Insufficient evidence to classify as pathogenic or benign. Clinical correlation, family studies, and functional data are recommended. Periodic reanalysis is advised as new evidence emerges.
Variant is unlikely to be disease-causing. Clinical evaluation for alternative genetic or non-genetic causes should be considered.
NLRP1 gene mutations were not identified. This does not exclude a genetic aetiology. Consider other gene panels or whole exome/genome sequencing based on clinical suspicion.
Consult a geneticist or ophthalmologist if you or your child experience progressive corneal clouding, reduced tear production, chronic eye redness, blistering or peeling skin, abnormal hair or nail growth, missing or malformed teeth, or unexplained photosensitivity. Early diagnosis allows timely intervention and family screening.
Limitations
- ⚠This test does not detect large structural rearrangements beyond the resolution of NGS-based CNV analysis
- ⚠Deep intronic variants, regulatory region mutations, and mitochondrial DNA variants are not covered
- ⚠Variants of uncertain significance (VUS) may be identified and require clinical correlation and family studies
- ⚠This test does not replace comprehensive clinical evaluation by ophthalmology and genetics specialists
- ⚠Negative results do not completely exclude a genetic aetiology if mutations lie outside the NLRP1 gene
Risks & Considerations
- ●Minimal risk associated with blood draw – slight bruising or discomfort at the puncture site
- ●Psychological impact of genetic diagnosis – genetic counselling is recommended before and after testing
- ●Potential identification of variants of uncertain significance (VUS) which may cause anxiety
- ●Implications for family members – a positive result may indicate inherited risk in relatives
Interfering Factors
- ●Degraded or insufficient DNA quality from the sample may affect sequencing results
- ●Recent blood transfusion within the past 4 weeks may lead to mixed genotype profiles
- ●Haemolysed or clotted blood samples may be rejected and require recollection
- ●Contamination during sample collection or transport may impact NGS library preparation
Compare With Similar Tests
| Test | NLRP1 Gene Corneal Intraepithelial Dyskeratosis and Ectodermal Dysplasia NGS Genetic Test | Sanger Sequencing of NLRP1 Gene | Whole Exome Sequencing (WES) | Chromosomal Microarray (CMA) | Whole Genome Sequencing (WGS) |
|---|---|---|---|---|---|
| Comparison | NLRP1 Gene Corneal Intraepithelial Dyskeratosis and Ectodermal Dysplasia NGS Genetic Test |
Frequently Asked Questions
What is the NLRP1 Gene Corneal Intraepithelial Dyskeratosis and Ectodermal Dysplasia NGS Genetic Test?
What symptoms suggest I should consider this genetic test?
What sample is required for this test?
How much does the NLRP1 Gene NGS Genetic Test cost?
How long does it take to receive the results?
Is fasting required before sample collection?
What files and reports will I receive with my test results?
Is home sample collection available for this test?
Is pre-test genetic counselling required?
What does a positive (pathogenic variant detected) result mean?
Can this test be used for carrier screening or prenatal diagnosis?
What should I do if my result is negative but symptoms persist?
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