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DOCK7 Gene Early infantile epileptic encephalopathy type 23 NGS Genetic Test

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DOCK7 Gene Early infantile epileptic encephalopathy type 23 NGS Genetic Test

Short Name: DOCK7 EIEE23 NGS Test

Also known as: EIEE23, DOCK7-related epilepsy, DOCK7 encephalopathy

DOCK7 Gene Early infantile epileptic encephalopathy type 23 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 to 4 weeks from sample receipt at the laboratory. Free home collection in 300+ cities across India.

Genetic TestMale and FemaleInfants and Young Children🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to detect pathogenic variants in the DOCK7 gene to confirm a diagnosis of early infantile epileptic encephalopathy type 23, guide clinical management, inform genetic counseling, and identify carriers for family planning.

Test Code
1602
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt at the laboratory
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Genetic counseling is recommended prior to testing to discuss implications, family history, and consent.

Method: Venipuncture or Saliva Collection

Step 2

Laboratory Analysis

Sample collection involves a blood draw via venipuncture or a saliva sample, following standard procedures.

Step 3

Report Delivery

The sample is labeled, processed, and sent to the laboratory for NGS analysis; results are interpreted by a geneticist.

Timeline: 3 to 4 weeks from sample receipt at the laboratory

Patient Instructions

1
Before the Test:Genetic counseling to discuss test implications, family history, and obtain informed consent. Provide clinical history to the referring physician.
2
During the Test:Sample collection as per instructions, typically a blood draw or saliva collection at a lab or via home collection service.
3
After the Test:Results are analyzed and reported within 3-4 weeks; follow-up with a geneticist or neurologist to discuss findings and next steps.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic variants in the DOCK7 gene to confirm a diagnosis of early infantile epileptic encephalopathy type 23, guide clinical management, inform genetic counseling, and identify carriers for family planning.

How to Prepare

  • For blood sample: no fasting required, avoid strenuous activity before collection
  • For saliva sample: avoid eating, drinking, or smoking for 30 minutes prior
  • Ensure proper labeling and documentation

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early genetic diagnosis through NGS can guide management, treatment, and genetic counseling for families affected by epileptic encephalopathies."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or Saliva Collection

Sample Stability

Blood sample stable at room temperature for up to 48 hours
FTA card sample stable for extended periods under recommended conditions
Sample Rejection Criteria:
  • Hemolyzed, clotted, or contaminated samples
  • Insufficient sample volume or DNA yield
  • Incorrect sample type or container

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the DOCK7 gene, which is associated with early infantile epileptic encephalopathy type 23. Positive results confirm the diagnosis, while negative results do not rule out other genetic or non-genetic causes.
📊

Pathogenic variant detected

Confirms diagnosis of DOCK7-related early infantile epileptic encephalopathy type 23; genetic counseling and tailored management recommended.

📊

No pathogenic variant detected

DOCK7 gene mutations not identified; consider other genetic tests or clinical evaluation for epilepsy etiology.

⚠️ When to Consult a Doctor:

Consult a neurologist or geneticist if your child has uncontrolled seizures, developmental delays, or a family history of epileptic encephalopathy. Early evaluation can facilitate timely diagnosis and intervention.

Limitations

  • Test only analyzes the DOCK7 gene; other genetic causes may not be identified
  • May not detect all types of variants (e.g., deep intronic mutations)
  • Results require clinical correlation and genetic counseling

Risks & Considerations

  • Minimal risk from blood draw, such as bruising or discomfort
  • Emotional or psychological impact of test results
  • No significant physical risks from saliva collection

Interfering Factors

  • Sample contamination or degradation
  • Improper sample collection or handling
  • Low DNA quality or quantity

Compare With Similar Tests

TestDOCK7 Gene Early infantile epileptic encephalopathy type 23 NGS Genetic TestWhole Exome SequencingEpilepsy Gene PanelChromosomal Microarray
ComparisonDOCK7 Gene Early infantile epileptic encephalopathy type 23 NGS Genetic Test

Frequently Asked Questions

What is the DOCK7 Gene Early Infantile Epileptic Encephalopathy Type 23 NGS Genetic Test?
It is a genetic test using next-generation sequencing (NGS) to identify mutations in the DOCK7 gene, which causes early infantile epileptic encephalopathy type 23 (EIEE23), a severe neurological disorder in infants.
What are the symptoms of EIEE23?
Symptoms include difficult-to-control seizures starting in infancy, developmental delays, intellectual disability, speech and language delays, and muscle weakness.
How is the test performed?
The test is performed on a blood or saliva sample using NGS technology to analyze the DOCK7 gene for pathogenic variants.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available across India.
Is the test covered by insurance?
Many health insurance plans may cover the test; it is advisable to check with your insurance provider for specific coverage details.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card can be used; saliva samples may also be accepted based on lab protocols.
Can the test be done at home?
Yes, DNA Labs India offers free home sample collection for this test; book online for convenience.
What are the risks of the test?
Risks are minimal, such as slight discomfort from blood draw; there are no significant risks from saliva collection.
How accurate is the test?
The test is highly accurate for detecting mutations in the DOCK7 gene using NGS technology, but results should be interpreted in clinical context.
What happens if the test is positive?
A positive result confirms DOCK7-related EIEE23; genetic counseling and tailored management, including anti-seizure medications and therapies, will be recommended.
Is genetic counseling available?
Yes, genetic counseling is provided as part of the test process to discuss implications, family history, and support decision-making.
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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