KMT2A Gene Wiedemann-Steiner syndrome NGS Genetic Test
Short Name: KMT2A WSS NGS
Also known as: WSS Genetic Test, KMT2A Gene Sequencing, Wiedemann-Steiner Syndrome NGS Panel
KMT2A Gene Wiedemann-Steiner 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 after the sample reaches the laboratory.. 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 purpose of this test is to confirm or rule out a clinical diagnosis of Wiedemann-Steiner Syndrome by identifying pathogenic variants in the KMT2A gene. It is also used for carrier testing, prenatal diagnosis in at-risk pregnancies, and to provide accurate genetic counseling for affected families. NGS technology allows simultaneous analysis of multiple genes if a broader panel is required, but this test specifically targets the KMT2A gene.
- Test Code
- 5988
- 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
- Reports 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 is collected by a trained phlebotomist using sterile techniques. For FTA card, a few drops of blood are placed on the card and allowed to dry.
Report Delivery
No specific precautions. The sample is transported to the laboratory at ambient temperature.
Timeline: Reports 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 Wiedemann-Steiner Syndrome by identifying pathogenic variants in the KMT2A gene. It is also used for carrier testing, prenatal diagnosis in at-risk pregnancies, and to provide accurate genetic counseling for affected families. NGS technology allows simultaneous analysis of multiple genes if a broader panel is required, but this test specifically targets the KMT2A gene.
How to Prepare
- Ensure the patient's identity is verified.
- Use EDTA vacutainer for blood collection.
- If using FTA card, label with patient ID and date.
- Store sample at room temperature until shipment.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic confirmation of WSS is crucial for appropriate management and family counseling. NGS provides high sensitivity for KMT2A mutations."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Insufficient sample volume
- Improper labeling
- Sample received after prolonged transit time (>7 days) without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of WSS. Genetic counseling recommended for family members.
Likely pathogenic variant detected
High likelihood of disease. Further segregation analysis may be helpful.
Variant of uncertain significance (VUS)
Insufficient evidence to determine pathogenicity. Additional testing of family members may be needed.
No pathogenic variant detected
No mutation found in KMT2A. Consider other genetic causes or re-evaluation.
If you or your child have symptoms suggestive of WSS, or if there is a family history of the condition, consult a clinical geneticist or pediatrician for evaluation and genetic testing. Early diagnosis can facilitate timely interventions and management.
Limitations
- ⚠This test only analyzes the KMT2A gene; other genes causing similar phenotypes are not covered.
- ⚠Variants in non-coding regions may not be detected.
- ⚠Large genomic rearrangements may be missed.
- ⚠Results should be interpreted in the context of clinical findings.
- ⚠Variant of uncertain significance (VUS) may require further family studies.
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
- ●Contamination of sample with foreign DNA
- ●Poor DNA quality or quantity
- ●Incomplete clinical information may affect interpretation
- ●Presence of large deletions/duplications not detected by standard NGS (requires MLPA or array CGH)
Compare With Similar Tests
| Test | KMT2A Gene Wiedemann-Steiner syndrome NGS Genetic Test | Whole Exome Sequencing (WES) | KMT2A Targeted Mutation Analysis | Chromosomal Microarray (CMA) |
|---|---|---|---|---|
| Comparison | KMT2A Gene Wiedemann-Steiner syndrome NGS Genetic Test |
Frequently Asked Questions
What is Wiedemann-Steiner Syndrome?
How is WSS diagnosed?
What is the cost of the KMT2A NGS test at DNA Labs India?
What sample is required for this test?
Do I need to fast before the test?
How long does it take to get the results?
Will I receive raw data files?
Is home sample collection available?
Can this test be done for children?
What does a negative result mean?
Is genetic counseling included?
Is this test covered by insurance?
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