CACNA1H Gene Epilepsy, childhood absence type 6, susceptibility to NGS Genetic Test
Short Name: CACNA1H Epilepsy NGS
Also known as: CACNA1H Gene Mutation Test, Childhood Absence Epilepsy Type 6 Genetic Test, NGS Epilepsy Gene Test
CACNA1H Gene Epilepsy, childhood absence type 6, susceptibility to 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 3 to 4 Weeks hours. 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 the CACNA1H gene NGS test is to identify disease-causing variants in the CACNA1H gene that may increase susceptibility to childhood absence epilepsy type 6. The result can help confirm a genetic basis for the condition, guide management, and inform family members about recurrence risks.
- Test Code
- 4066
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks hours
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. A detailed clinical history of the patient, including age of onset, seizure types, EEG findings, and family history, should be provided. A genetic counselling session is recommended before the test to understand implications.
Method: Peripheral blood venipuncture or FTA card spot
Laboratory Analysis
A trained phlebotomist will collect a blood sample from an arm vein. For FTA card, one drop of blood from a finger prick (or heel in infants) is applied to the card. The procedure is quick and simple.
Report Delivery
No recovery period is needed. The child can resume normal activities immediately after sample collection. The sample will be securely transported to the laboratory for analysis.
About This Test
Who Should Get This Test
The purpose of the CACNA1H gene NGS test is to identify disease-causing variants in the CACNA1H gene that may increase susceptibility to childhood absence epilepsy type 6. The result can help confirm a genetic basis for the condition, guide management, and inform family members about recurrence risks.
How to Prepare
- Blood: 3-5 ml in an EDTA vacutainer, gently invert to mix.
- Extracted DNA: 5-10 µg in a sterile tube, labeled with patient ID.
- FTA card: Apply one drop of blood onto the printed circle, air dry for at least 30 minutes at room temperature, store in a dry place.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"CACNA1H gene variations may contribute to childhood absence epilepsy susceptibility. Genetic testing can support aetiological diagnosis and inform family counselling. Discuss results with your child's neurologist."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood sample.
- Insufficient sample quantity.
- Sample not properly labelled or with incomplete requisition form.
- Sample received without appropriate patient consent or genetic counselling documentation.
Understanding Your Results
Positive
Action: Pathogenic variant detected: consistent with CACNA1H-associated susceptibility. Discuss with a neurologist and genetic counsellor for management and family screening.
Negative
Action: No pathogenic variant identified. Other genetic or non-genetic causes of epilepsy should be considered.
Variant of Unknown Significance (VUS)
Action: Additional family testing may clarify the significance. Counsel the family on the need for further evaluation.
Consult a doctor if the test result is positive, if the child had a previous unexplained seizure, or if seizure control is not optimal. Any new neurological symptoms should be evaluated promptly.
Limitations
- ⚠This test analyzes the CACNA1H gene only and may not detect mutations in other epilepsy-related genes.
- ⚠Large deletions, duplications, or deep intronic variants may not be detected by standard NGS.
- ⚠A negative result does not exclude a genetic cause of epilepsy.
- ⚠Variants of unknown significance may require additional family studies.
Risks & Considerations
- ●Minimal risk of bruising, bleeding, or infection at the site of blood draw.
- ●Fingertip or heel prick may cause temporary discomfort.
Interfering Factors
- ●Blood transfusion within the last 72 hours can dilute the patient's DNA.
- ●Contaminated or degraded DNA may cause test failure.
- ●Sample mix-up or mislabelling can result in incorrect results.
Frequently Asked Questions
What is childhood absence epilepsy type 6?
What is the role of the CACNA1H gene?
How is childhood absence epilepsy diagnosed?
Who should get the CACNA1H NGS test?
What is the cost of the test at DNA Labs India?
What sample types are accepted?
How long does it take to get the report?
Is genetic counselling included?
What does a positive result mean?
What does a negative result mean?
Are there any risks of the test?
How can I book this test?
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