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KCNA2 Gene Early infantile epileptic encephalopathy type 32 NGS Genetic Test

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KCNA2 Gene Early infantile epileptic encephalopathy type 32 NGS Genetic Test

Short Name: KCNA2 EIEE32 NGS Test

Also known as: KCNA2 Gene Mutation Analysis, KCNA2-Related Early Infantile Epileptic Encephalopathy, EIEE32 Genetic Test, KCNA2 Gene Sequencing Test

KCNA2 Gene Early infantile epileptic encephalopathy type 32 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 generally available within 3 to 4 weeks from the date the sample is received at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestPediatric🏠 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 purpose of this test is to identify pathogenic or likely pathogenic variants in the KCNA2 gene in individuals with clinical features suggestive of early infantile epileptic encephalopathy type 32, thereby confirming the molecular diagnosis and enabling informed clinical management and genetic counselling.

Test Code
4031
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are generally available within 3 to 4 weeks from the date the sample is received at the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. The referring physician must provide the clinical history, family history and a signed consent form. A genetic counselling session may be arranged to draw a pedigree chart of family members affected with KCNA2-related disease.

Method: Blood draw / FTA card spot / DNA submission

Step 2

Laboratory Analysis

For blood collection, a standard venipuncture is performed using an EDTA vacutainer. For FTA card, one drop of blood is applied to the marked circle. For extracted DNA, the sample is transferred to a sterile labelled DNA vial.

Step 3

Report Delivery

The sample should be sent to DNA Labs India in the provided transport packaging. FTA cards must be kept dry and should not be refrigerated. No special recovery period is needed after sample collection.

Timeline: Reports are generally available within 3 to 4 weeks from the date the sample is received at the laboratory.

Patient Instructions

1
Before the Test:No special preparation is needed. Complete the test requisition form, provide clinical notes and family history, and attend genetic counselling if recommended by your physician.
2
During the Test:A blood sample or FTA blood spot is collected. The procedure is quick and usually takes only a few minutes.
3
After the Test:You may resume normal activities immediately. The sample is transported to the laboratory for NGS analysis.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic or likely pathogenic variants in the KCNA2 gene in individuals with clinical features suggestive of early infantile epileptic encephalopathy type 32, thereby confirming the molecular diagnosis and enabling informed clinical management and genetic counselling.

How to Prepare

  • Use EDTA vacutainer for whole blood collection
  • For FTA card, allow one drop of blood to saturate the marked area and air dry
  • Label the sample with the patient's name, date of birth and collection time
  • Submit the completed test requisition form with clinical details and family pedigree

Doctor's Notes

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

"A positive result should always be interpreted alongside the clinical seizure type, developmental milestones and a three-generation family pedigree. Providing a detailed clinical summary before testing helps reduce uncertain results and supports accurate recurrence-risk counselling for parents."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per laboratory protocol
ContainerEDTA vacutainer / FTA card / DNA vial
Collection MethodBlood draw / FTA card spot / DNA submission

Sample Stability

Blood: transport at ambient temperature; avoid direct sunlight, heat and freezing
FTA card: stable at room temperature when completely dry
Extracted DNA: stable in DNA stabilisation buffer at 2-8°C or as per laboratory instructions
Sample Rejection Criteria:
  • Hemolyzed, clotted or visibly degraded blood sample
  • Insufficient DNA quantity or poor DNA quality
  • Mislabeled or unlabeled sample
  • FTA card received while still wet or sealed in an airtight bag
  • Sample transported in conditions that could cause DNA degradation

Understanding Your Results

The genetic test report should be reviewed by a clinical geneticist and discussed with the referring physician in the context of the child's clinical presentation, family history and other laboratory findings.
Positive: A pathogenic/likely pathogenic variant in KCNA2 confirms the molecular diagnosis of EIEE32.
Negative: No clinically significant variant was detected; this does not exclude other genetic causes of the child's epilepsy.
VUS: A variant of uncertain significance was found; additional testing in family members may be required to clarify its clinical relevance.
⚠️ When to Consult a Doctor:

Consult a pediatric neurologist or clinical geneticist if an infant develops seizures, developmental regression, abnormal muscle tone or unexplained epilepsy. Early genetic testing is recommended for timely diagnosis and counselling.

Limitations

  • ⚠NGS may not detect large deletions, duplications, trinucleotide repeat expansions, or structural rearrangements
  • ⚠Variants in deep intronic or regulatory regions may not be identified by standard targeted NGS
  • ⚠Absence of a KCNA2 variant does not exclude another genetic cause of epileptic encephalopathy
  • ⚠Variant of uncertain significance may require further family segregation studies

Risks & Considerations

  • ●Minor pain or bruising at the blood collection site
  • ●Rare risk of local infection at venipuncture site
  • ●No radiation exposure
  • ●Possible emotional impact of genetic results

Interfering Factors

  • ●Degraded DNA may reduce sequencing quality
  • ●Sample contamination from another individual
  • ●Improper labeling of sample tubes or FTA card
  • ●Low DNA yield or DNA quantity below laboratory specification
  • ●Technical sequencing artifacts in GC-rich regions

Frequently Asked Questions

What is the KCNA2 gene EIEE32 NGS genetic test?
It is a next-generation sequencing test that analyses the KCNA2 gene to detect pathogenic variants associated with early infantile epileptic encephalopathy type 32.
What is early infantile epileptic encephalopathy type 32?
EIEE32 is a rare genetic disorder caused by variants in the KCNA2 gene. It affects potassium ion flow in neurons and can cause early-onset seizures, developmental delay and intellectual disability.
Who should consider this test?
Infants and children with seizures beginning in the first months of life, unexplained developmental delay, intellectual disability, movement disorder or clinical suspicion of genetic epilepsy may be considered for this test after evaluation by a neurologist.
What sample is needed for the KCNA2 gene test?
The test can be done using blood, extracted DNA, or one drop of blood on an FTA card. The sample type can be discussed with the laboratory before booking.
Does this test require fasting?
No, fasting is not required for this KCNA2 gene NGS genetic test.
How long does it take to get the report?
Reports are usually provided within 3 to 4 weeks after the sample is received at the laboratory.
What is the cost of the KCNA2 gene EIEE32 NGS genetic test?
The test cost at DNA Labs India is INR 20000. Special discounted pricing may apply for online bookings.
What do the test results mean?
If a pathogenic or likely pathogenic variant is found in the KCNA2 gene, it confirms the molecular diagnosis of EIEE32. A negative result means no clinically significant variant was identified, and other genetic causes may need to be explored.
Is genetic counselling needed for this test?
Yes. Pre-test genetic counselling is recommended to draw a pedigree chart and obtain informed consent. Post-test counselling is also important to understand the result and recurrence risk.
Does DNA Labs India provide raw data files with the report?
Yes, DNA Labs India is transparent about genetic data. It provides raw data, FASTQ and VCF files along with the conclusive clinical test report for this KCNA2 gene test.
Does DNA Labs India provide home sample collection?
Yes, free home sample collection is available for online bookings of the KCNA2 gene EIEE32 NGS genetic test across many cities in India.
Which cities are covered for home sample collection?
Home sample collection is available in Mumbai, Delhi, Bangalore, Hyderabad, Ahmedabad, Chennai, Kolkata, Surat, Pune, Jaipur, Lucknow and many other cities across India.
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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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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