EHMT1 Gene Kleefstra syndrome NGS Genetic Test
Short Name: EHMT1 NGS Test
Also known as: Kleefstra syndrome genetic test, EHMT1 gene sequencing, NGS for EHMT1 mutation
EHMT1 Gene Kleefstra 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 Reports are typically available within 3 to 4 weeks from the date of sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The primary purpose of this test is to confirm or rule out a diagnosis of Kleefstra syndrome in individuals presenting with suggestive clinical features such as intellectual disability, developmental delay, speech and language delays, behavioral problems, and distinctive facial features. It is also used for carrier testing in at-risk family members and for prenatal diagnosis in families with a known EHMT1 mutation. The test aids in genetic counseling, prognosis assessment, and management planning.
- Test Code
- 5814
- CPT Code
- 81407
- ICD Code
- Q87.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks from the date of sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended to discuss the purpose, benefits, and limitations of the test. Please provide a detailed clinical history and any prior genetic testing results.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a few drops of blood will be applied to the card. The procedure is quick and minimally invasive.
Report Delivery
No specific precautions are needed. You can resume normal activities immediately. The sample will be transported to the laboratory for analysis.
Timeline: Reports are typically available within 3 to 4 weeks from the date of sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this test is to confirm or rule out a diagnosis of Kleefstra syndrome in individuals presenting with suggestive clinical features such as intellectual disability, developmental delay, speech and language delays, behavioral problems, and distinctive facial features. It is also used for carrier testing in at-risk family members and for prenatal diagnosis in families with a known EHMT1 mutation. The test aids in genetic counseling, prognosis assessment, and management planning.
How to Prepare
- Ensure the patient's identity is verified with a valid ID
- Use EDTA vacutainer for blood collection or FTA card for dried blood spots
- Label the sample with patient name, date of birth, and collection date
- Transport the sample at ambient temperature (15-25°C) to the laboratory within 24 hours
- Avoid hemolysis or clotting of the blood sample
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Kleefstra syndrome is a rare but recognizable genetic condition. Early molecular confirmation via NGS is crucial for appropriate management and family counseling."
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 (>72 hours) without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Kleefstra syndrome. Genetic counseling and family screening recommended.
Likely pathogenic variant detected
Highly suggestive of Kleefstra syndrome. Additional evidence may be needed for definitive classification.
Variant of uncertain significance (VUS)
Cannot determine clinical significance. Further testing of family members may help clarify.
No pathogenic variant detected
Does not exclude Kleefstra syndrome. Consider other genetic causes or alternative testing.
If the test result is positive or uncertain, it is essential to consult a clinical geneticist or pediatric neurologist for comprehensive management and genetic counseling. Early intervention can significantly improve outcomes.
Limitations
- ⚠This test does not detect all types of mutations (e.g., deep intronic variants, large structural rearrangements may be missed)
- ⚠Variant of uncertain significance (VUS) may require further family studies
- ⚠Negative result does not exclude all genetic causes of the phenotype; other genes may be involved
- ⚠Test is not intended for prenatal diagnosis without prior genetic counseling
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving a genetic diagnosis
- ●Potential for uncertain results (VUS) requiring further testing
Interfering Factors
- ●Poor quality or degraded DNA sample
- ●Contamination during sample collection
- ●Incomplete clinical information may affect interpretation
- ●Presence of pseudogenes or homologous sequences may complicate analysis
Compare With Similar Tests
| Test | EHMT1 Gene Kleefstra syndrome NGS Genetic Test | Chromosomal Microarray (CMA) | Whole Exome Sequencing (WES) | Sanger Sequencing |
|---|---|---|---|---|
| Comparison | EHMT1 Gene Kleefstra syndrome NGS Genetic Test | CMA detects large copy number variants but cannot identify small sequence mutations in EHMT1. NGS is more sensitive for point mutations. | WES covers all coding regions of the genome, including EHMT1, but is more expensive and may have longer turnaround time. Targeted NGS is cost-effective for specific syndromes. | Sanger sequencing is used for targeted confirmation of known familial mutations but is not suitable for initial screening due to low throughput. |
Frequently Asked Questions
What is the cost of the EHMT1 gene NGS test in India?
What is Kleefstra syndrome?
How is the EHMT1 gene test performed?
What is the turnaround time for results?
Is fasting required before the test?
Can the test be done on children?
What does a positive result mean?
What if the result is negative?
Is genetic counseling included?
Do you offer home sample collection?
What sample types are accepted?
How accurate is the NGS test?
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