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CDKL5 Gene Early infantile epileptic encephalopathy type 2 NGS Genetic Test

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CDKL5 Gene Early infantile epileptic encephalopathy type 2 NGS Genetic Test

Short Name: CDKL5 EIEE2 NGS Test

Also known as: CDKL5-related disorder, EIEE2, CDKL5 deficiency syndrome

CDKL5 Gene Early infantile epileptic encephalopathy type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3-4 weeks. Free home collection in 300+ cities across India.

Genetic TestMale and FemaleInfants and Children🏠 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 the CDKL5 Gene EIEE2 NGS Genetic Test is to diagnose early infantile epileptic encephalopathy type 2 by detecting pathogenic mutations in the CDKL5 gene. This enables early intervention, symptom management, and informed genetic counseling for affected individuals and families.

Test Code
1591
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No special preparation is required. Inform the healthcare provider about any medications or medical history. A genetic counseling session is recommended to discuss family history and test implications.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture from a vein in the arm. The process typically takes a few minutes and involves minimal discomfort.

Step 3

Report Delivery

Apply pressure to the puncture site with a cotton ball to stop bleeding. Avoid strenuous activity for a short period. The sample will be processed for NGS analysis.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Genetic counseling is recommended to discuss test purpose, implications, and family history. No fasting is required.
2
During the Test:The test involves a simple blood draw. Sample is processed using NGS technology to sequence the CDKL5 gene.
3
After the Test:Results are available in 3-4 weeks. Follow-up counseling is advised to interpret results and plan next steps.

About This Test

Who Should Get This Test

The purpose of the CDKL5 Gene EIEE2 NGS Genetic Test is to diagnose early infantile epileptic encephalopathy type 2 by detecting pathogenic mutations in the CDKL5 gene. This enables early intervention, symptom management, and informed genetic counseling for affected individuals and families.

How to Prepare

  • Ensure proper labeling of the sample
  • Store the sample at ambient room temperature
  • Transport to the laboratory within 24 hours
  • Use sterile collection techniques

Doctor's Notes

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

"Genetic testing for CDKL5 mutations is essential for early diagnosis and management of EIEE2, especially in families with a history of epilepsy or developmental disorders. Timely intervention can improve outcomes and guide genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL
ContainerEDTA blood tube
Collection MethodVenipuncture

Sample Stability

Blood sample stable at room temperature for 24 hours
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Test results indicate the presence or absence of pathogenic mutations in the CDKL5 gene associated with EIEE2. Interpretation should be done in conjunction with clinical findings and genetic counseling.
📊

Positive

Pathogenic CDKL5 gene mutation detected, consistent with EIEE2 diagnosis. Further clinical evaluation and management are recommended.

📊

Negative

No pathogenic CDKL5 gene mutation detected. However, clinical symptoms may be due to other genetic or non-genetic factors. Additional testing may be considered.

📊

Variant of Uncertain Significance

A genetic variant was detected, but its clinical significance is unclear. Follow-up testing or family studies may be needed.

⚠️ When to Consult a Doctor:

Consult a genetic counselor, neurologist, or pediatrician if your child shows symptoms such as early-onset seizures, developmental delays, or intellectual disability. Also, consult for family planning if there is a known family history of CDKL5 mutations.

Limitations

  • ⚠May not detect all variant types (e.g., large deletions)
  • ⚠Limited to CDKL5 gene analysis only
  • ⚠Cannot rule out other genetic causes of epilepsy

Risks & Considerations

  • ●Minimal risk from blood draw, such as slight pain, bruising, or infection
  • ●Emotional impact of results, requiring genetic counseling support

Interfering Factors

  • ●Sample contamination
  • ●DNA degradation
  • ●Improper sample storage

Compare With Similar Tests

TestCDKL5 Gene Early infantile epileptic encephalopathy type 2 NGS Genetic Test
ComparisonCDKL5 Gene Early infantile epileptic encephalopathy type 2 NGS Genetic TestNGS for CDKL5 is more specific for this gene, while panels cover multiple genes associated with epilepsy.WES is broader but more costly; CDKL5 NGS is targeted and cost-effective for suspected EIEE2.Karyotyping detects chromosomal abnormalities, while NGS identifies point mutations in the CDKL5 gene.

Frequently Asked Questions

What is CDKL5 Gene Early Infantile Epileptic Encephalopathy Type 2?
EIEE2 is a rare genetic disorder caused by mutations in the CDKL5 gene, leading to early-onset seizures, developmental delays, and intellectual disability, primarily affecting infants.
How is EIEE2 diagnosed?
EIEE2 is diagnosed through genetic testing, specifically the NGS Genetic Test for CDKL5 gene mutations, performed on blood samples.
What is the purpose of the NGS Genetic Test for CDKL5?
The test detects mutations in the CDKL5 gene to confirm EIEE2 diagnosis, enabling early treatment and genetic counseling.
Who should consider this genetic test?
Infants or children with symptoms like early-onset seizures, developmental delays, or a family history of CDKL5 mutations or EIEE2 should consider this test.
What sample is required for the test?
The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.
How much does the CDKL5 Gene EIEE2 NGS Genetic Test cost?
The cost is INR 20000, with free home sample collection available across India.
Is home sample collection available for this test?
Yes, free home sample collection is offered for online bookings in many cities across India.
How long does it take to receive the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive test result indicate?
A positive result means a pathogenic CDKL5 gene mutation was detected, confirming EIEE2 diagnosis. Clinical management and genetic counseling are recommended.
Can the test be used for prenatal diagnosis?
Prenatal testing may be possible through genetic counseling, but this test is typically postnatal. Consult a genetic specialist for prenatal options.
Are there any risks associated with the test?
Risks are minimal, primarily related to blood draw (e.g., bruising). Emotional impacts may require counseling support.
How can I interpret the test results?
Results should be interpreted by a genetic counselor or healthcare provider. Positive results indicate mutation presence, negative suggests no mutation, and variants may need further 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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