CNTN1 Gene Compton-North congenital myopathy NGS Genetic Test
Short Name: CNTN1 NGS Genetic Test
Also known as: CNTN1 Gene Mutation Analysis, CNTN1 Next Generation Sequencing Test, Contactin-1 Gene Genetic Test, Compton-North Myopathy Genetic Test
CNTN1 Gene Compton-North congenital myopathy NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Sequencing (Confirmation) 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 purpose of this test is to confirm or rule out a genetic diagnosis of Compton-North congenital myopathy by identifying pathogenic or likely pathogenic variants in the CNTN1 gene using Next-Generation Sequencing technology.
- Test Code
- 1565
- CPT Code
- 81479
- ICD Code
- G71.2
- 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), Sanger Sequencing (Confirmation)
Sample Collection
Genetic counselling session is recommended before sample collection. Provide complete clinical history and family pedigree information. No fasting is required for this test.
Method: Venipuncture / Finger Prick
Laboratory Analysis
A blood sample of 3-5 mL will be collected by venipuncture into an EDTA vacutainer, or alternatively a finger-prick blood drop can be applied to an FTA card. The procedure is similar to a routine blood draw.
Report Delivery
Apply pressure to the puncture site for 3-5 minutes. The sample is transported to the laboratory under controlled conditions for DNA extraction and NGS analysis.
Timeline: 3 to 4 Weeks from sample receipt at the laboratory
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm or rule out a genetic diagnosis of Compton-North congenital myopathy by identifying pathogenic or likely pathogenic variants in the CNTN1 gene using Next-Generation Sequencing technology.
How to Prepare
- No fasting required prior to sample collection
- Provide signed informed consent for genetic testing
- Complete family history and clinical information form
- Genetic counselling session recommended before and after testing
- Avoid heparinized blood samples; use EDTA vacutainer preferred
- FTA card samples should be air-dried completely before packaging
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Congenital myopathies such as CNTN1-related Compton-North myopathy present with early-onset hypotonia and muscle weakness. Genetic confirmation through NGS is essential to differentiate this condition from other muscular and neuromuscular disorders, enabling targeted management and accurate genetic counselling for families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Heparinized blood samples
- Clotted or hemolyzed blood samples
- Samples without proper labeling or patient identification
- Samples received without signed consent form
- Severely degraded DNA with insufficient quality metrics
Understanding Your Results
No pathogenic or likely pathogenic variants were identified in the CNTN1 gene. This reduces the likelihood of CNTN1-related Compton-North myopathy but does not completely exclude all genetic causes of the patient's symptoms. Clinical correlation and further investigation may be warranted.
Result type: Negative / No Pathogenic Variants Detected
One or more pathogenic or likely pathogenic variants were identified in the CNTN1 gene, consistent with a diagnosis of CNTN1-related Compton-North congenital myopathy. Genetic counselling is recommended to discuss implications for the patient and family members.
Result type: Positive / Pathogenic Variant Detected
A variant of uncertain significance was detected in the CNTN1 gene. This variant cannot currently be classified as pathogenic or benign based on available evidence. Clinical correlation, family studies, and periodic re-evaluation are recommended.
Result type: Variant of Uncertain Significance (VUS)
The patient carries a single pathogenic variant in the CNTN1 gene, consistent with carrier status. Recurrence risk counselling is recommended for family planning purposes.
Result type: Carrier Status Identified
Consult a neurologist or clinical geneticist if your child presents with unexplained muscle weakness, hypotonia, delayed motor milestones, or if a family member has been diagnosed with CNTN1-related myopathy. Early consultation facilitates timely genetic testing and appropriate management.
Limitations
- ⚠This test targets the CNTN1 gene only; other genes associated with congenital myopathy are not included in this panel
- ⚠Deep intronic variants and regulatory region mutations may not be detected
- ⚠Variants of Uncertain Significance (VUS) may be identified and require further clinical correlation
- ⚠This test does not detect trinucleotide repeat expansions or balanced chromosomal rearrangements
- ⚠Results should be interpreted in conjunction with clinical findings and family history by a qualified geneticist
Risks & Considerations
- ●Minimal risk associated with blood draw: slight bruising, soreness, or infection at the puncture site
- ●Psychological impact of genetic results may require counselling support
- ●Identification of variants of uncertain significance may cause anxiety and require further evaluation
Interfering Factors
- ●Degraded or insufficient DNA quality may affect sequencing results
- ●Blood transfusion within the past 60 days may affect DNA analysis
- ●Contamination during sample collection or transport
- ●Heparinized blood samples may interfere with NGS library preparation
Compare With Similar Tests
| Test | CNTN1 Gene Compton-North congenital myopathy NGS Genetic Test | Whole Exome Sequencing (WES) | Sanger Sequencing | Chromosomal Microarray (CMA) |
|---|---|---|---|---|
| Comparison | CNTN1 Gene Compton-North congenital myopathy NGS Genetic Test | WES analyzes all coding genes simultaneously and may be more appropriate when the specific gene is unknown. The CNTN1-specific NGS test provides targeted, deeper coverage of a single gene at a lower cost. | Sanger sequencing examines one exon at a time and is used for confirmation of known variants. NGS provides comprehensive, parallel analysis of the entire gene with higher sensitivity for variant detection. | CMA detects large chromosomal deletions and duplications but cannot identify point mutations or small indels in genes like CNTN1. NGS is superior for single-gene disorder diagnosis. |
Frequently Asked Questions
What is the CNTN1 Gene Compton-North Congenital Myopathy NGS Genetic Test?
Who should consider getting this CNTN1 gene test?
What sample is required for the CNTN1 NGS Genetic Test?
How much does the CNTN1 Gene NGS Genetic Test cost in India?
How long does it take to get the results?
Is fasting required before giving a sample for this test?
What does a positive result mean?
What does a negative result mean?
Can this test be done for prenatal diagnosis?
Is home sample collection available for this genetic test?
What is genetic counselling and is it necessary?
Is the CNTN1 Gene NGS test different from a whole exome sequencing test?
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