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CPA6 Gene Epilepsy, familial temporal lobe type 5 NGS Genetic Test

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CPA6 Gene Epilepsy, familial temporal lobe type 5 NGS Genetic Test

Short Name: CPA6 Gene Epilepsy NGS Test

Also known as: CPA6 Gene Mutation Test, Familial Temporal Lobe Epilepsy Type 5 Genetic Test, Temporal Lobe Epilepsy NGS Test

CPA6 Gene Epilepsy, familial temporal lobe type 5 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 issued within 3 to 4 weeks from the date of sample receipt at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The primary purpose of this NGS test is to identify pathogenic or likely pathogenic variants in the CPA6 gene, thereby supporting the clinical diagnosis of familial temporal lobe epilepsy type 5. It also helps in risk evaluation for at-risk family members and guides genetic counselling.

Test Code
4073
Price
₹20,000
Sample Type
Blood or Extracted DNA or One Drop Blood on FTA Card
Result Time
Reports are issued within 3 to 4 weeks from the date of sample receipt at the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. However, a genetic counselling session is necessary before testing to collect a detailed clinical history and draw a three-generation pedigree chart.

Method: Venipuncture or FTA Card Blood Spot

Step 2

Laboratory Analysis

A blood sample is collected from a vein, or a single blood spot is obtained on an FTA card. The procedure is quick and minimally invasive.

Step 3

Report Delivery

After collection, the sample is transported to the laboratory at room temperature. You can resume routine activities immediately. The report will be available within 3 to 4 weeks.

Timeline: Reports are issued within 3 to 4 weeks from the date of sample receipt at the laboratory.

Patient Instructions

1
Before the Test:No fasting is required. However, a genetic counselling session is necessary before testing to collect a detailed clinical history and draw a three-generation pedigree chart.
2
During the Test:A blood sample is collected from a vein, or a single blood spot is obtained on an FTA card. The procedure is quick and minimally invasive.
3
After the Test:After collection, the sample is transported to the laboratory at room temperature. You can resume routine activities immediately. The report will be available within 3 to 4 weeks.

About This Test

Who Should Get This Test

The primary purpose of this NGS test is to identify pathogenic or likely pathogenic variants in the CPA6 gene, thereby supporting the clinical diagnosis of familial temporal lobe epilepsy type 5. It also helps in risk evaluation for at-risk family members and guides genetic counselling.

How to Prepare

  • Identity verification before sample collection
  • Use a sterile EDTA tube for blood or sterile lancet for FTA card
  • Label the sample with patient name and unique ID
  • Allow FTA card to dry completely before packaging
  • Transport sample at ambient temperature to the lab

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Testing for CPA6 gene mutations should be guided by a detailed family history and seizure semiology. Genetic counselling is essential before and after the test."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One Drop Blood on FTA Card
Sample VolumeAs required for selected sample type
ContainerEDTA Tube or FTA Card
Collection MethodVenipuncture or FTA Card Blood Spot

Sample Stability

Whole blood EDTA: 24-48 hours at room temperature
FTA card: stable at room temperature for several days/weeks
Extracted DNA: stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolysed or clotted blood sample
  • Insufficient blood quantity
  • Unlabelled or mislabeled sample
  • FTA card with wet or contaminated spots

Understanding Your Results

This NGS-based test evaluates the CPA6 gene for sequence variants. Results are interpreted according to ACMG/AMP guidelines and should be correlated with clinical findings by a qualified geneticist.
No pathogenic variant detected: No mutation was found in the CPA6 gene. A clinical diagnosis may still be possible, and other genetic causes should be considered.
Pathogenic variant detected: A disease-causing variant was identified, supporting the diagnosis and enabling family testing.
Likely pathogenic variant detected: A variant that is highly suspected to be disease-causing; additional testing or family segregation may help.
Variant of uncertain significance: A genetic change was found, but its role in disease is unclear; further functional or family studies may be needed.
⚠️ When to Consult a Doctor:

You should consult a neurologist or a clinical geneticist if you experience recurrent partial seizures, unexplained loss of consciousness, memory disturbance, or psychiatric changes, particularly if there is a family history of epilepsy.

Limitations

  • ⚠Standard NGS may not detect large deletions, duplications, or deep intronic variants
  • ⚠Variants of uncertain significance may be reported
  • ⚠A negative CPA6 result does not rule out epilepsy or other genetic causes
  • ⚠Genetic results should be interpreted with clinical and family context

Risks & Considerations

  • ●Slight pain or bruising at the blood draw site
  • ●Fainting or light-headedness during venipuncture (rare)
  • ●No significant other risks for a standard blood/FTA test

Interfering Factors

  • ●Poor DNA quality from degraded samples
  • ●PCR inhibitors in the sample
  • ●Sample contamination
  • ●Incorrect sample labelling

Compare With Similar Tests

TestCPA6 Gene Epilepsy, familial temporal lobe type 5 NGS Genetic TestEpilepsy Gene PanelWhole Exome SequencingSanger Sequencing
ComparisonCPA6 Gene Epilepsy, familial temporal lobe type 5 NGS Genetic Test

Frequently Asked Questions

What is the CPA6 gene epilepsy NGS genetic test?
It is a next-generation sequencing test that looks for mutations in the CPA6 gene linked to familial temporal lobe epilepsy type 5.
What is familial temporal lobe epilepsy type 5?
It is a rare inherited epilepsy syndrome caused by mutations in the CPA6 gene, characterized by focal seizures originating from the temporal lobe.
What are the symptoms of CPA6 gene epilepsy?
Symptoms may include partial seizures, loss of consciousness, memory problems, confusion, and psychiatric symptoms like anxiety or depression.
How is the CPA6 gene test performed?
The test uses a blood sample, extracted DNA, or a single drop of blood on an FTA card. No fasting is required.
What does the NGS test detect?
It detects pathogenic, likely pathogenic, and uncertain variants in the CPA6 gene coding and splice-site regions.
What does a positive result mean?
A positive result means a mutation was found that supports the diagnosis of CPA6-related familial temporal lobe epilepsy, and family members can be offered targeted testing.
What does a negative result mean?
A negative result means no mutation was detected in CPA6. It does not rule out epilepsy or other genetic causes.
Who should have this test?
People with clinical suspicion of familial temporal lobe epilepsy, a family history, or unexplained features such as temporal lobe seizures may be candidates.
Is genetic counselling needed before testing?
Yes. A genetic counselling session is required to draw a pedigree chart and discuss the benefits, limitations, and implications of the test.
How long do reports take?
Reports are generally delivered in 3 to 4 weeks.
What is the cost of this test at DNA Labs India?
The special discounted price is INR 20000, which includes free home sample collection in selected cities.
Can this test be done for children?
Yes, the test can be ordered by a neurologist or geneticist for individuals of any age, including children, after appropriate clinical evaluation.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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