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SIK1 Gene Early infantile epileptic encephalopathy type 30 NGS Genetic Test

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SIK1 Gene Early infantile epileptic encephalopathy type 30 NGS Genetic Test

Short Name: SIK1 Gene EIEE30 NGS Test

Also known as: EIEE30, SIK1-related encephalopathy

SIK1 Gene Early infantile epileptic encephalopathy type 30 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 Reports are delivered within 3 to 4 weeks via online portal, email, or WhatsApp.. Free home collection in 300+ cities across India.

NGS Genetic TestUnisexInfants and Young 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 this test is to detect mutations in the SIK1 gene to diagnose Early Infantile Epileptic Encephalopathy Type 30, facilitating early intervention, symptom management, and informed family planning.

Test Code
1605
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are delivered within 3 to 4 weeks via online portal, email, or WhatsApp.
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Ensure genetic counseling session is completed to document family history and draw a pedigree chart. No fasting is required for blood collection.

Method: Venipuncture for blood, or saliva collection

Step 2

Laboratory Analysis

A blood sample will be drawn via venipuncture, or a saliva sample may be collected using a provided kit. For FTA card, a single drop of blood is applied.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store samples as instructed and transport to the laboratory promptly.

Timeline: Reports are delivered within 3 to 4 weeks via online portal, email, or WhatsApp.

Patient Instructions

1
Before the Test:Complete pre-test genetic counseling and provide clinical history. No special preparation is needed for blood collection.
2
During the Test:Sample collection takes 10-15 minutes. The process is minimally invasive with low risk.
3
After the Test:Resume normal activities. Monitor the collection site for any signs of infection or excessive bleeding.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the SIK1 gene to diagnose Early Infantile Epileptic Encephalopathy Type 30, facilitating early intervention, symptom management, and informed family planning.

How to Prepare

  • Schedule a home collection or visit a walk-in center
  • Provide detailed clinical history and family pedigree
  • Avoid eating or drinking for 30 minutes before saliva collection
  • Label samples correctly with patient information

Doctor's Notes

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

"Early genetic testing for SIK1 gene mutations is crucial for managing EIEE Type 30, allowing timely intervention and family 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 blood or equivalent
ContainerEDTA tube or FTA card
Collection MethodVenipuncture for blood, or saliva collection

Sample Stability

Blood: stable at 2-8°C for 72 hours
FTA card: stable at room temperature for years
Extracted DNA: stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Unlabeled or mislabeled samples
  • Contaminated saliva sample
  • Sample received beyond stability period

Understanding Your Results

Results from the SIK1 Gene EIEE30 NGS Genetic Test are interpreted by clinical geneticists. A positive result indicates a pathogenic variant in the SIK1 gene, confirming diagnosis. A negative result may require further evaluation if clinical suspicion remains high.
Pathogenic variant detected: Confirms EIEE Type 30 diagnosis, recommend neurology referral and genetic counseling.
Variant of uncertain significance: Further testing or family studies may be needed; clinical correlation essential.
No pathogenic variant detected: EIEE Type 30 unlikely, but other genetic causes should be considered.
⚠️ When to Consult a Doctor:

Consult a genetic counselor or neurologist immediately if the test is positive or if there are persistent symptoms despite negative results. Regular follow-up is advised for management.

Limitations

  • ⚠May not detect all types of SIK1 gene variants, such as large deletions or duplications
  • ⚠Results require clinical correlation and genetic counseling
  • ⚠Turnaround time may vary based on laboratory workload

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Rare risk of infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Contaminated sample
  • ●Insufficient sample volume
  • ●Improper storage conditions
  • ●Recent blood transfusion

Compare With Similar Tests

TestSIK1 Gene Early infantile epileptic encephalopathy type 30 NGS Genetic Test
ComparisonSIK1 Gene Early infantile epileptic encephalopathy type 30 NGS Genetic Test

Frequently Asked Questions

What is the SIK1 gene?
The SIK1 gene provides instructions for making a protein involved in brain development and function. Mutations can lead to neurological disorders like EIEE Type 30.
What is Early Infantile Epileptic Encephalopathy Type 30?
EIEE Type 30 is a rare genetic disorder caused by SIK1 gene mutations, presenting with seizures and developmental delays in infancy.
What are the common symptoms of EIEE Type 30?
Symptoms include seizures, intellectual disability, speech problems, muscle stiffness, and abnormal movements, typically appearing within the first few months of life.
How is EIEE Type 30 diagnosed?
Diagnosis is confirmed through genetic testing, such as NGS, which identifies mutations in the SIK1 gene from a blood or saliva sample.
What is the cost of the SIK1 Gene EIEE30 NGS Test in India?
The test costs INR 20,000 at DNA Labs India, with home sample collection available across major cities.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India.
What samples are required for the test?
The test can be performed on blood, extracted DNA, or one drop of blood on an FTA card.
Do I need to fast before the test?
No, fasting is not required for this genetic test.
What should I do after receiving a positive result?
Consult a genetic counselor or neurologist for management options, which may include medication and supportive therapies.
Is the test covered by insurance?
Coverage varies; check with your insurance provider. At DNA Labs India, we provide upfront pricing without insurance claims.
Why is early diagnosis important?
Early diagnosis allows for timely intervention to manage symptoms, prevent complications, and provide genetic counseling for families.
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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Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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