KCNH1 Gene Temple-Baraitser syndrome NGS Genetic Test
Short Name: KCNH1 NGS Test
Also known as: Temple-Baraitser Syndrome Genetic Test, KCNH1 Gene Mutation Test, TBS NGS Panel
KCNH1 Gene Temple-Baraitser 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 delivered within 3 to 4 weeks after the sample reaches 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 primary purpose of this NGS genetic test is to confirm a clinical diagnosis of Temple-Baraitser syndrome by identifying pathogenic mutations in the KCNH1 gene. It is also used for carrier testing in at-risk family members and for prenatal diagnosis in families with a known mutation. The test aids in differentiating TBS from other similar neurodevelopmental disorders, guiding appropriate medical management and surveillance. Additionally, it provides crucial information for genetic counseling regarding recurrence risks and family planning.
- Test Code
- 5953
- 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 delivered 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 clinical history and genetic counseling session is recommended before the test to draw a pedigree chart and discuss the implications.
Method: Venipuncture or Finger-prick
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a simple finger-prick blood spot is collected.
Report Delivery
No specific precautions. The sample will be transported to the laboratory for analysis.
Timeline: Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this NGS genetic test is to confirm a clinical diagnosis of Temple-Baraitser syndrome by identifying pathogenic mutations in the KCNH1 gene. It is also used for carrier testing in at-risk family members and for prenatal diagnosis in families with a known mutation. The test aids in differentiating TBS from other similar neurodevelopmental disorders, guiding appropriate medical management and surveillance. Additionally, it provides crucial information for genetic counseling regarding recurrence risks and family planning.
How to Prepare
- Ensure the patient's identity is verified before sample collection.
- Use EDTA tube for blood collection; mix gently to prevent clotting.
- For FTA card, apply blood drops to the designated circles and air dry.
- Label the sample with patient's name, date, and unique ID.
- Transport the sample to the lab within 24-48 hours at ambient temperature.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Temple-Baraitser syndrome is a rare neurodevelopmental disorder. Early genetic confirmation is crucial for management and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit without proper storage
Understanding Your Results
Positive (Pathogenic variant detected)
Confirms diagnosis of Temple-Baraitser syndrome. Genetic counseling is recommended for the family.
Action: Discuss management options, surveillance, and family planning.
Negative (No pathogenic variant detected)
No mutation found in KCNH1 gene. TBS is less likely, but other genetic causes should be considered.
Action: Consider broader genetic testing or referral to a specialist.
Variant of Unknown Significance (VUS)
A genetic variant was found, but its clinical significance is unclear.
Action: Further family studies or functional assays may be needed. Genetic counseling is essential.
Consult a doctor if your child shows signs of developmental delay, seizures, or unusual facial features. Early diagnosis can lead to better management and support. Also, if you have a family history of Temple-Baraitser syndrome, genetic counseling is advised before testing.
Limitations
- ⚠This test detects mutations only in the KCNH1 gene; other genes may be involved in similar phenotypes.
- ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be required.
- ⚠Variant interpretation may be limited by current scientific knowledge.
- ⚠Test does not assess non-coding regulatory regions unless specifically included.
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
- ●Insufficient DNA quantity or quality
- ●Presence of maternal cell contamination in prenatal samples
- ●Genetic variants of unknown significance (VUS) may require further analysis
Compare With Similar Tests
| Test | KCNH1 Gene Temple-Baraitser syndrome NGS Genetic Test | Whole Exome Sequencing (WES) | Karyotyping | Chromosomal Microarray (CMA) |
|---|---|---|---|---|
| Comparison | KCNH1 Gene Temple-Baraitser syndrome NGS Genetic Test |
Frequently Asked Questions
What is Temple-Baraitser syndrome?
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