CDH15 Gene Mental retardation, autosomal dominant type 3 NGS Genetic Test
Short Name: CDH15 NGS Genetic Test
Also known as: CDH15 Gene Mutation Analysis, MRD3 Genetic Test, Cadherin-15 Gene Sequencing, CDH15-Related Intellectual Disability NGS Test
CDH15 Gene Mental retardation, autosomal dominant type 3 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, Saliva, Extracted DNA, or One drop Blood on FTA Card samples. Results in Reports are usually available within 3 to 4 weeks from the date the sample is received in 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 NGS genetic test is to identify disease-causing variants in the CDH15 gene in individuals with features suggestive of autosomal dominant type 3 mental retardation. It assists in confirming the clinical diagnosis, establishing the genetic cause for the family, guiding recurrence risk assessment, and enabling reproductive counselling.
- Test Code
- 4239
- Price
- ₹20,000
- Sample Type
- Blood, Saliva, Extracted DNA, or One drop Blood on FTA Card
- Result Time
- Reports are usually available within 3 to 4 weeks from the date the sample is received in the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. Please carry any previous genetic reports, clinical history notes, and a list of medications if applicable. A pre-test genetic counselling session should be completed to draw a pedigree chart of affected family members.
Method: Venous blood draw; saliva collection; FTA card spot; extracted DNA submission
Laboratory Analysis
For blood collection, a small volume of venous blood is drawn using an EDTA vial. For FTA card, one drop of blood is spotted on the card and allowed to dry. For saliva, patient provides specimen in the provided kit. No special pain or risk is involved.
Report Delivery
No specific restrictions. Patient can resume normal activities. The sample will be transported in a temperature-controlled container to the laboratory for DNA extraction and sequencing.
Timeline: Reports are usually available within 3 to 4 weeks from the date the sample is received in the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify disease-causing variants in the CDH15 gene in individuals with features suggestive of autosomal dominant type 3 mental retardation. It assists in confirming the clinical diagnosis, establishing the genetic cause for the family, guiding recurrence risk assessment, and enabling reproductive counselling.
How to Prepare
- Pre-test genetic counselling is recommended before sample collection
- Use an EDTA tube for blood collection if blood sample is requested
- For FTA card, spot one drop of blood on the marked circles and air-dry completely
- Label the sample with patient name and unique identifier
- Do not send sample without the signed requisition form
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"In families with unexplained intellectual disability, targeted genetic testing can help establish the cause and guide recurrence risk counselling. This test is especially useful when CDH15-related MRD3 is suspected."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Unlabelled or mislabelled sample
- Severely hemolyzed or clotted blood sample
- Insufficient sample volume
- Sample transported after prolonged delay without cold chain
- Evidence of leakage or contamination of the sample container
Understanding Your Results
Pathogenic variant detected
Confirms the diagnosis of CDH15-related autosomal dominant type 3 mental retardation. The variant is causative for the phenotype.
Action: Genetic counselling for family, predictive testing for at-risk relatives and clinical management.
Likely pathogenic variant detected
Variant is highly likely to be disease-causing but additional evidence is needed to fully confirm pathogenicity.
Action: Segregation testing in affected family members and further clinical evaluation are recommended.
Variant of uncertain significance (VUS)
A gene change was found, but its effect on protein function is not yet known. This cannot be used to confirm or exclude the diagnosis.
Action: Family segregation studies, functional analysis, or re-classification after future evidence is advised.
No pathogenic variant detected
No clinically significant CDH15 variant was found. CDH15 is unlikely to be the cause of the individual's intellectual disability.
Action: Discuss broader testing options such as intellectual disability panel or chromosomal microarray.
If the test detects a pathogenic or likely pathogenic variant, the patient and at-risk family members should consult a clinical geneticist for family testing, recurrence risk counselling and management planning. If symptoms persist despite a negative result, a broader intellectual disability panel or whole exome sequencing may be considered.
Limitations
- ⚠This is a targeted CDH15 gene test and does not evaluate other genes associated with intellectual disability
- ⚠Large structural rearrangements, deep intronic variants, or copy number changes involving CDH15 may not be reliably detected by standard NGS if not specifically covered
- ⚠A variant of uncertain significance does not provide a definitive diagnosis without further family studies
- ⚠A negative result does not exclude the possibility of intellectual disability due to other genetic or non-genetic causes
Risks & Considerations
- ●Minor pain, bleeding or bruising at the blood draw site
- ●Emotional stress from genetic test results
- ●Potential for variant reclassification in the future
Interfering Factors
- ●Recent blood transfusion or bone marrow transplant may alter genetic test results
- ●Maternal cell contamination of blood or tissue samples can interfere with detection of variants
- ●Poor DNA quality or quantity due to sample degradation, high temperature, or prolonged transport
- ●Incomplete clinical or family history may limit interpretation of findings
Compare With Similar Tests
| Test | CDH15 Gene Mental retardation, autosomal dominant type 3 NGS Genetic Test | Targeted CDH15 NGS Test | Intellectual Disability NGS Panel | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | CDH15 Gene Mental retardation, autosomal dominant type 3 NGS Genetic Test |
Frequently Asked Questions
What is the CDH15 gene?
What is autosomal dominant type 3 mental retardation?
Why is NGS used for this genetic test?
Who should consider this test?
What sample is needed for the CDH15 NGS test?
Is fasting required before sample collection?
How many days will the CDH15 NGS test report take?
What does a positive CDH15 test result mean?
What does a negative CDH15 test result mean?
What is the cost of the CDH15 NGS genetic test in India?
How can I book the CDH15 NGS genetic test?
Will this test detect all causes of mental retardation?
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