TBC1D24 Gene Early infantile epileptic encephalopathy type 16 NGS Genetic Test
Short Name: TBC1D24 Gene EIEE Type 16 NGS Test
Also known as: Early Infantile Epileptic Encephalopathy 16, EIEE16, Epileptic Encephalopathy Early Infantile Type 16, TBC1D24-Related Epileptic Encephalopathy, TBC1D24 Gene Mutation Test
TBC1D24 Gene Early infantile epileptic encephalopathy type 16 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation of Variants, Bioinformatic Analysis on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from sample receipt at the laboratory. Report delivery is available via online portal, email, and WhatsApp. Urgent cases may be accommodated upon special request—please contact DNA Labs India for expedited processing options.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The primary purpose of the TBC1D24 Gene EIEE Type 16 NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the TBC1D24 gene that cause Early Infantile Epileptic Encephalopathy Type 16. This test enables a precise molecular diagnosis, which is essential for confirming the clinical suspicion of EIEE16, guiding appropriate therapeutic interventions, informing prognosis, facilitating genetic counseling for affected families, and enabling carrier testing and prenatal diagnosis for future pregnancies. The test also helps differentiate EIEE16 from other genetic and non-genetic causes of early-onset epilepsy, thereby avoiding unnecessary investigations and enabling targeted management.
- Test Code
- 1601
- CPT Code
- 81404
- ICD Code
- G40.83
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from sample receipt at the laboratory. Report delivery is available via online portal, email, and WhatsApp. Urgent cases may be accommodated upon special request—please contact DNA Labs India for expedited processing options.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation of Variants, Bioinformatic Analysis
Sample Collection
No special preparation or fasting is required prior to sample collection. Ensure that a detailed clinical history and family pedigree chart have been completed with the assistance of a genetic counselor before sample submission.
Method: Venipuncture / FTA Card Heel Prick
Laboratory Analysis
A peripheral blood sample (3-5 mL) will be collected via venipuncture into an EDTA (lavender-top) vacutainer. For neonates or infants, alternatively, one drop of blood may be applied to an FTA card. The collection will be performed by a trained phlebotomist following standard aseptic techniques.
Report Delivery
The blood sample will be labeled, sealed, and transported at ambient room temperature to the DNA Labs India laboratory. Ensure all documentation including patient consent, clinical history, and pedigree chart accompanies the sample. Avoid freezing the sample. Results will be available within 3 to 4 weeks and will be shared via the online portal, email, and WhatsApp.
Timeline: Results are typically available within 3 to 4 weeks from sample receipt at the laboratory. Report delivery is available via online portal, email, and WhatsApp. Urgent cases may be accommodated upon special request—please contact DNA Labs India for expedited processing options.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the TBC1D24 Gene EIEE Type 16 NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the TBC1D24 gene that cause Early Infantile Epileptic Encephalopathy Type 16. This test enables a precise molecular diagnosis, which is essential for confirming the clinical suspicion of EIEE16, guiding appropriate therapeutic interventions, informing prognosis, facilitating genetic counseling for affected families, and enabling carrier testing and prenatal diagnosis for future pregnancies. The test also helps differentiate EIEE16 from other genetic and non-genetic causes of early-onset epilepsy, thereby avoiding unnecessary investigations and enabling targeted management.
How to Prepare
- Collect 3-5 mL of peripheral blood in an EDTA (lavender-top) vacutainer using standard venipuncture technique
- For neonates or difficult venous access, a heel-prick sample on an FTA card is acceptable
- Gently invert the EDTA tube 8-10 times immediately after collection to ensure proper mixing with anticoagulant
- Clearly label the sample with patient name, date of birth, unique ID, and date of collection
- Store and transport the sample at ambient room temperature (15-30°C); do not freeze or refrigerate
- Ensure the sample reaches the laboratory within 48 hours of collection for optimal DNA integrity
- Include completed requisition form, clinical history summary, and signed patient consent form with the sample
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early Infantile Epileptic Encephalopathy Type 16 caused by TBC1D24 gene mutations is a serious condition that often presents with treatment-resistant seizures in the first months of life. NGS-based genetic testing is invaluable for achieving a precise molecular diagnosis, which can guide targeted management, inform genetic counseling for families, and help avoid unnecessary diagnostic procedures. I strongly recommend this test for any infant presenting with unexplained early-onset epilepsy, developmental regression, or refractory seizures, particularly when MRI findings are non-specific or suggestive of a genetic etiology. Early diagnosis through genetic testing empowers families with knowledge and opens doors to emerging therapeutic strategies and support networks."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed, clotted, or grossly contaminated samples
- Samples collected in incorrect anticoagulant (e.g., heparin, sodium fluoride)
- Samples without proper labeling or identification
- Insufficient sample volume (less than 1 mL blood)
- Samples received beyond the stability period
- Samples without accompanying requisition form or clinical documentation
Understanding Your Results
Pathogenic Variant Detected
One or more disease-causing mutations in the TBC1D24 gene have been identified. This confirms the molecular diagnosis of EIEE Type 16 and is consistent with the clinical presentation. Genetic counseling is advised for family implications, recurrence risk assessment, and discussion of treatment options.
Likely Pathogenic Variant Detected
Variants with strong evidence supporting their role in disease have been identified. Clinical correlation with the patient's phenotype is essential. Additional family studies may be recommended to further confirm pathogenicity. Genetic counseling is advised.
Variant of Uncertain Significance (VUS)
A variant with insufficient evidence to classify as pathogenic or benign has been detected. This result cannot confirm or exclude the diagnosis. Clinical follow-up, family segregation studies, and periodic re-evaluation as new scientific evidence emerges are recommended.
Likely Benign or Benign Variant Detected
Variants identified are not expected to cause disease. If clinical suspicion remains high, further genetic testing including a broader epilepsy gene panel or whole-exome sequencing may be considered.
No Pathogenic Variant Detected
No disease-causing mutations were identified in the TBC1D24 gene. This result does not entirely exclude a genetic basis for the patient's condition. Mutations in other genes or non-coding regions may be responsible. Additional investigations, including broader genetic panels or whole-exome/genome sequencing, should be discussed with the referring physician and genetic counselor.
Consult your doctor or genetic counselor if your child presents with early-onset seizures (particularly within the first few months of life), unexplained developmental delay, treatment-resistant epilepsy, abnormal EEG patterns, or if there is a family history of infantile epilepsy or neurological disorders. Early genetic evaluation is critical for timely diagnosis and management. If you have received a positive or uncertain result from this test, genetic counseling is strongly recommended to discuss the implications, recurrence risks, and available management options.
Limitations
- ⚠This test targets the coding regions and flanking splice sites of the TBC1D24 gene; deep intronic variants, regulatory region mutations, and large copy number variations may not be detected
- ⚠The test does not detect mitochondrial DNA variants
- ⚠Structural variants such as large deletions, duplications, or chromosomal rearrangements involving the TBC1D24 locus may require additional testing such as chromosomal microarray (CMA) or MLPA
- ⚠Variants of Uncertain Significance (VUS) may be identified, which require clinical correlation and may be reclassified over time as more data becomes available
- ⚠The clinical significance of detected variants depends on the patient's phenotype, family history, and co-segregation analysis
- ⚠A negative result does not entirely exclude a genetic basis for the patient's condition, as mutations in other genes can cause similar phenotypes
Risks & Considerations
- ●Minor pain or discomfort at the venipuncture or heel-prick site
- ●Small risk of bruising or swelling at the blood collection site
- ●Very rare risk of infection at the puncture site
- ●Fainting or lightheadedness during or after blood collection (vasovagal response)
- ●Psychological impact of genetic test results on the patient and family; genetic counseling is strongly recommended to mitigate emotional distress
Interfering Factors
- ●Hemolyzed or degraded blood samples may reduce DNA quality and affect sequencing results
- ●Recent blood transfusion (within 120 days) may lead to mixed DNA profiles and confound variant detection
- ●Contamination during sample collection or transport may compromise test accuracy
- ●Insufficient sample volume or inadequate DNA yield may delay or prevent testing
- ●Presence of mosaicism may result in variants being detected at lower allele frequencies, potentially below the analytical sensitivity threshold
Compare With Similar Tests
| Test | TBC1D24 Gene Early infantile epileptic encephalopathy type 16 NGS Genetic Test | ||||||
|---|---|---|---|---|---|---|---|
| Comparison | TBC1D24 Gene Early infantile epileptic encephalopathy type 16 NGS Genetic Test |
Frequently Asked Questions
What is the TBC1D24 Gene EIEE Type 16 NGS Genetic Test?
What are the symptoms of Early Infantile Epileptic Encephalopathy Type 16?
Who should get this genetic test?
What sample is required for this test?
Is fasting required before the test?
How long does it take to get the results?
What is the cost of the TBC1D24 Gene EIEE Type 16 NGS Genetic Test?
Is home sample collection available for this test?
What does a positive test result mean?
What if the test result is negative but my child still has seizures?
Does DNA Labs India provide raw genetic data files?
Is genetic counseling available for families?
Related Tests
Angelman Syndrome Test
₹10,000Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
₹14,000Episodic Ataxia Type 1 Hotspot Test
₹11,500Episodic Ataxia Comprehensive Profile Hotspot Test
₹16,000Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
₹7,500Analyzer 18 SMA 18 Test Panel
₹1,755Reference 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.
Your Data Privacy
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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.