KMT2C Gene Developmental delay, KMT2C related NGS Genetic Test
Short Name: KMT2C NGS Genetic Test
Also known as: KMT2C Gene Sequencing, KMT2C-Related NGS Genetic Test, KMT2C Developmental Delay Genetic Test
KMT2C Gene Developmental delay, KMT2C related 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 The report will be delivered within 3 to 4 weeks from the date of sample receipt. Once the NGS analysis and clinical interpretation are completed, you will be notified via SMS, email, or WhatsApp.. 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 KMT2C-related NGS Genetic Test is performed to identify pathogenic variants in the KMT2C gene that are associated with developmental delay, intellectual disability, and syndromic features. It uses next-generation sequencing to analyse the KMT2C coding region and splice sites. The test helps confirm a clinical suspicion, provide recurrence risk counselling, and guide management.
- Test Code
- 4014
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- The report will be delivered within 3 to 4 weeks from the date of sample receipt. Once the NGS analysis and clinical interpretation are completed, you will be notified via SMS, email, or WhatsApp.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. Please carry any prior medical records, developmental assessments, and imaging reports. A genetic counselling session may be arranged before blood collection to understand the family history and the implications of the test.
Method: Peripheral blood draw, FTA card blood spot, or submitted extracted DNA
Laboratory Analysis
A small amount of blood is drawn from a vein in the arm. For FTA card collection, one drop of blood is placed on the card. The procedure is quick and generally causes minimal discomfort.
Report Delivery
No special precautions are required after sample collection. The sample is safely transported to the laboratory for NGS processing. You will be informed once the report is ready.
Timeline: The report will be delivered within 3 to 4 weeks from the date of sample receipt. Once the NGS analysis and clinical interpretation are completed, you will be notified via SMS, email, or WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The KMT2C-related NGS Genetic Test is performed to identify pathogenic variants in the KMT2C gene that are associated with developmental delay, intellectual disability, and syndromic features. It uses next-generation sequencing to analyse the KMT2C coding region and splice sites. The test helps confirm a clinical suspicion, provide recurrence risk counselling, and guide management.
How to Prepare
- No fasting is required before the test.
- Prior genetic counselling is recommended.
- Please inform the laboratory about any family history of developmental delay or genetic disorders.
- Carry a valid prescription and any relevant clinical records.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This genetic test should be ordered after a detailed clinical evaluation and genetic counselling. The result should always be interpreted in the context of the child's developmental history and family pedigree."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Haemolysed or clotted blood samples
- Mislabeled sample without requisition form
- Sample received without consent or counselling documentation
- FTA card not dried or improperly collected
Understanding Your Results
Positive for Pathogenic/Likely Pathogenic variant
Confirms the clinical diagnosis of KMT2C-related developmental delay; genetic counselling recommended.
Variant of Uncertain Significance (VUS)
Further family studies and clinical correlation are required to clarify the significance.
Negative (No pathogenic variant detected)
Does not exclude KMT2C-related disorder; other genetic or non-genetic causes should be considered.
If your child has global developmental delay, speech or language delay, intellectual disability, behavioural problems, or dysmorphic features, consult a pediatric neurologist or clinical geneticist for a comprehensive assessment.
Limitations
- ⚠This assay is targeted to the KMT2C gene and does not perform whole exome screening.
- ⚠Large structural variants, repeat expansions, or large copy number changes may not be detected by this NGS test.
- ⚠A variant of uncertain significance (VUS) may require additional family studies or functional validation.
- ⚠Clinical correlation is required before interpreting a negative result.
Risks & Considerations
- ●Very low risk of bruising, bleeding, or infection at the puncture site
- ●Fainting or vasovagal reaction during blood collection
- ●Psychological impact of unexpected genetic findings
Interfering Factors
- ●Degraded or fragmented DNA from improper storage/shipping
- ●Sample contamination with extraneous genetic material
- ●Incomplete clinical history or pedigree information
- ●Variants in non-coding or deep intronic regions not covered by the NGS assay
Frequently Asked Questions
What is KMT2C gene developmental delay?
What is the KMT2C-related NGS Genetic Test?
Why is NGS used for KMT2C testing?
What symptoms can prompt KMT2C genetic testing?
What is the cost of the KMT2C test at DNA Labs India?
Do I need fasting before the KMT2C NGS test?
What types of samples are accepted?
What is the turnaround time for the KMT2C NGS test?
Will I receive my raw sequencing data?
Should I get genetic counselling before the test?
Can KMT2C-related developmental delay be prevented or treated?
Who should order this test?
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