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PLCB1 Gene Early infantile epileptic encephalopathy type 12 NGS Genetic Test

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PLCB1 Gene Early infantile epileptic encephalopathy type 12 NGS Genetic Test

Short Name: EIEE12 NGS Genetic Test

Also known as: EIEE12, PLCB1-related encephalopathy, Infantile epileptic encephalopathy type 12

PLCB1 Gene Early infantile epileptic encephalopathy type 12 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 available within 3 to 4 weeks after sample collection.. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS) Genetic TestInfants and Pediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

To detect mutations in the PLCB1 gene for definitive diagnosis of Early Infantile Epileptic Encephalopathy Type 12, aiding in clinical management and genetic counseling.

Test Code
1593
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports available within 3 to 4 weeks after sample collection.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Genetic counseling session to discuss implications and draw a family pedigree chart.

Method: Venipuncture or Capillary Blood Collection

Step 2

Laboratory Analysis

Blood sample collection via venipuncture or capillary method with sterile techniques.

Step 3

Report Delivery

Sample labeled, stored at ambient temperature, and transported to the laboratory for processing.

Timeline: Reports available within 3 to 4 weeks after sample collection.

Patient Instructions

1
Before the Test:Consult with a geneticist or neurologist for pre-test counseling and assessment of symptoms.
2
During the Test:Sample analysis using NGS technology; no patient involvement during lab processing.
3
After the Test:Review results with a healthcare professional to understand implications and next steps.

About This Test

Who Should Get This Test

To detect mutations in the PLCB1 gene for definitive diagnosis of Early Infantile Epileptic Encephalopathy Type 12, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper sample labeling
  • Use aseptic techniques
  • Transport sample at room temperature
  • Avoid hemolysis

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Early genetic testing for PLCB1-related disorders is crucial for timely intervention and family counseling in infants with epileptic symptoms."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA Tube or FTA Card
Collection MethodVenipuncture or Capillary Blood Collection

Sample Stability

Blood sample stable for 7 days at room temperature
FTA card samples stable for extended periods at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the PLCB1 gene, confirming or ruling out EIEE12.
📊

Pathogenic variant detected

Confirms diagnosis of EIEE12; clinical correlation and genetic counseling recommended.

📊

No pathogenic variant detected

EIEE12 unlikely; consider other genetic or non-genetic causes.

📊

Variant of uncertain significance

Further evaluation with clinical history and family studies advised.

⚠️ When to Consult a Doctor:

If test results are abnormal, for family planning discussions, or if seizures or developmental delays persist despite negative results.

Limitations

  • ⚠May not detect large deletions or duplications
  • ⚠Limited to coding regions of PLCB1 gene
  • ⚠Variants of uncertain significance may be reported

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Poor sample quality or insufficient DNA
  • ●Contamination during sample handling
  • ●Technical limitations in detecting all mutation types

Compare With Similar Tests

TestPLCB1 Gene Early infantile epileptic encephalopathy type 12 NGS Genetic TestEEG TestMRI BrainComprehensive Epilepsy Gene Panel
ComparisonPLCB1 Gene Early infantile epileptic encephalopathy type 12 NGS Genetic Test

Frequently Asked Questions

What is the PLCB1 Gene EIEE12 NGS Genetic Test?
It is a next-generation sequencing test to detect mutations in the PLCB1 gene, diagnosing Early Infantile Epileptic Encephalopathy Type 12.
What are the symptoms of EIEE12?
Symptoms include early-onset seizures, developmental delay, intellectual disability, muscle spasms, and abnormal eye movements in infants.
Who should consider this test?
Infants with unexplained seizures, developmental delays, or a family history of similar disorders.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India, inclusive of home collection and reporting.
Is home sample collection available?
Yes, free home collection is offered across India for online bookings.
What if the test detects a variant of uncertain significance?
Additional clinical evaluation and family studies may be recommended for clarification.
Can this test be used for prenatal diagnosis?
Consult with a genetic counselor for prenatal applications, as the test is primarily postnatal.
How accurate is the NGS Genetic Test?
NGS technology provides high accuracy, but results should be interpreted with clinical findings.
What should I do after receiving the test results?
Discuss results with a healthcare professional or geneticist to understand management options.
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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