KANSL1 Gene Koolen syndrome NGS Genetic Test
Short Name: KANSL1 NGS
Also known as: Koolen Syndrome Genetic Test, KANSL1 Gene Sequencing, KANSL1-Related Intellectual Disability Test
KANSL1 Gene Koolen syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this test is to confirm or rule out a clinical diagnosis of Koolen Syndrome by identifying pathogenic variants in the KANSL1 gene. It is also used for carrier testing, prenatal diagnosis in at-risk pregnancies, and genetic counseling for affected families. Early molecular confirmation enables timely intervention, appropriate surveillance, and management of associated comorbidities such as cardiac defects, seizures, and skeletal abnormalities.
- Test Code
- 5819
- CPT Code
- 81407
- ICD Code
- Q87.89
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended before the test to discuss the implications and obtain informed consent.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a simple fingerstick blood spot is collected.
Report Delivery
No specific precautions. The sample will be transported to the laboratory for analysis.
Timeline: Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm or rule out a clinical diagnosis of Koolen Syndrome by identifying pathogenic variants in the KANSL1 gene. It is also used for carrier testing, prenatal diagnosis in at-risk pregnancies, and genetic counseling for affected families. Early molecular confirmation enables timely intervention, appropriate surveillance, and management of associated comorbidities such as cardiac defects, seizures, and skeletal abnormalities.
How to Prepare
- Ensure the patient's identity is verified
- Use sterile EDTA vacutainer for blood collection
- If using FTA card, allow blood spot to dry completely before packaging
- Label the sample with patient's name and unique ID
- Transport at ambient temperature
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Early genetic diagnosis of Koolen syndrome is crucial for timely intervention and management. NGS provides a comprehensive analysis of the KANSL1 gene, enabling accurate identification of pathogenic variants."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit time without proper storage
Understanding Your Results
Positive (Pathogenic variant)
Confirms diagnosis of Koolen Syndrome. Genetic counseling and family screening recommended.
Positive (Likely pathogenic variant)
Highly suggestive of Koolen Syndrome. Further clinical correlation and family studies advised.
Variant of uncertain significance (VUS)
Cannot be definitively classified. Additional testing and family segregation analysis may be needed.
Negative (No pathogenic variant)
KANSL1-related Koolen syndrome is unlikely. Consider other genetic causes if clinical suspicion remains.
Consult a geneticist or pediatrician if you or your child exhibits symptoms suggestive of Koolen Syndrome, such as intellectual disability, developmental delay, distinctive facial features, or multiple congenital anomalies. Early diagnosis can guide management and support.
Limitations
- ⚠This test does not detect large deletions/duplications involving KANSL1 gene (requires MLPA or array CGH)
- ⚠Variants in non-coding regulatory regions may not be detected
- ⚠Negative result does not completely rule out Koolen syndrome if clinical suspicion is high; other genetic causes may be considered
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic testing results
- ●Potential for incidental findings
Interfering Factors
- ●Poor quality or degraded DNA sample
- ●Contamination during sample collection
- ●Incomplete clinical information may affect interpretation
Compare With Similar Tests
| Test | KANSL1 Gene Koolen syndrome NGS Genetic Test | Chromosomal Microarray (CMA) | Whole Exome Sequencing (WES) | Sanger Sequencing |
|---|---|---|---|---|
| Comparison | KANSL1 Gene Koolen syndrome NGS Genetic Test |
Frequently Asked Questions
What is Koolen Syndrome?
How is Koolen Syndrome diagnosed?
What is the cost of the KANSL1 gene test in India?
What sample is required for the test?
Is fasting required before the test?
How long does it take to get results?
Can the test be done on children?
What does a positive test result mean?
Are there any risks associated with the test?
Is genetic counseling provided?
Can this test detect all types of KANSL1 mutations?
Is home sample collection available?
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₹20,000Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
Your Data Privacy
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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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