HCN1 Gene Early infantile epileptic encephalopathy type 24 NGS Genetic Test
Short Name: HCN1 Gene EIEE24 NGS Test
Also known as: EIEE24, DEE24 (Developmental and Epileptic Encephalopathy 24), HCN1-related Epileptic Encephalopathy, HCN1 Gene Mutation Test, HCN1 Channelopathy Genetic Test
HCN1 Gene Early infantile epileptic encephalopathy type 24 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation (if required), Bioinformatics Variant 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 the date of sample receipt at the laboratory. Urgent cases may be prioritised upon request.. 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 purpose of the HCN1 Gene EIEE24 NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the HCN1 gene that cause early infantile epileptic encephalopathy type 24. This test is used to confirm a clinical diagnosis of EIEE24 in infants presenting with neonatal or early-onset seizures, guide antiepileptic drug selection by identifying the underlying genetic cause, provide accurate genetic counselling regarding inheritance patterns and recurrence risk for affected families, and enable informed clinical management and prognosis assessment by the treating neurologist.
- Test Code
- 1604
- CPT Code
- 81404
- ICD Code
- G40.419
- 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 the date of sample receipt at the laboratory. Urgent cases may be prioritised upon request.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation (if required), Bioinformatics Variant Analysis
Sample Collection
Ensure the patient or guardian has provided informed consent. A detailed clinical history of the patient should be documented. A genetic counselling session to draw a pedigree chart of family members affected with or suspected to have HCN1 gene-related disorders is strongly recommended before sample collection.
Method: Venipuncture
Laboratory Analysis
A blood sample of 3-5 mL is collected via venipuncture into an EDTA (lavender top) vacutainer tube. Alternatively, extracted DNA or a single drop of blood on an FTA card may be submitted. The sample should be clearly labelled with patient details.
Report Delivery
The collected sample should be stored at ambient room temperature and transported to the testing laboratory as per standard protocols. Avoid freezing whole blood samples. The NGS analysis will be performed, and results are typically available within 3 to 4 weeks. Post-test genetic counselling is recommended to discuss findings.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Urgent cases may be prioritised upon request.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the HCN1 Gene EIEE24 NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the HCN1 gene that cause early infantile epileptic encephalopathy type 24. This test is used to confirm a clinical diagnosis of EIEE24 in infants presenting with neonatal or early-onset seizures, guide antiepileptic drug selection by identifying the underlying genetic cause, provide accurate genetic counselling regarding inheritance patterns and recurrence risk for affected families, and enable informed clinical management and prognosis assessment by the treating neurologist.
How to Prepare
- Collect 3-5 mL of venous blood in an EDTA vacutainer tube under aseptic conditions
- Alternatively, use one drop of blood on an FTA card or submit extracted DNA
- Label the sample clearly with patient name, date of birth, and unique ID
- Store the sample at ambient room temperature; do not freeze
- Transport the sample to the laboratory within 48 hours of collection
- Include a completed test requisition form with clinical history and consent
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"HCN1 gene-related early infantile epileptic encephalopathy type 24 presents with drug-resistant seizures in the neonatal or early infantile period. Early molecular diagnosis through NGS allows clinicians to tailor antiepileptic drug selection and avoid medications that may worsen seizures. Genetic confirmation also enables accurate genetic counselling for families regarding recurrence risk and prognosis."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received without proper patient identification or labelling
- Haemolysed, clotted, or contaminated blood samples
- Insufficient sample volume for DNA extraction
- Sample collected in incorrect anticoagulant or container
- Missing or incomplete consent form and clinical history
- Sample received in severely degraded condition
Understanding Your Results
Pathogenic or Likely Pathogenic Variant Detected
Confirms molecular diagnosis of HCN1 gene-related early infantile epileptic encephalopathy type 24. Genetic counselling and tailored antiepileptic management are recommended. Family members may be offered targeted carrier testing.
Variant of Uncertain Significance (VUS) Detected
A variant was identified that cannot currently be classified as pathogenic or benign. Clinical correlation and familial segregation studies may help clarify significance. Periodic re-evaluation of the variant classification is recommended.
No Pathogenic Variants Detected
No disease-causing mutations were identified in the HCN1 gene. This does not exclude HCN1-related disorders caused by deep intronic or regulatory variants, nor does it exclude other genetic causes of epileptic encephalopathy. Additional genetic testing such as a broader epilepsy gene panel or whole exome sequencing may be considered.
Consult a paediatric neurologist or clinical geneticist if your infant experiences seizures in the first few months of life, particularly if seizures are frequent, difficult to control with medication, or accompanied by developmental delays, abnormal muscle tone, or movement difficulties. Early genetic testing is recommended for infants with suspected epileptic encephalopathy to enable timely diagnosis and personalised treatment planning.
Limitations
- ⚠This test does not detect large copy number variations (CNVs) or structural rearrangements unless specifically included
- ⚠Variants of uncertain significance (VUS) may be identified that cannot be definitively classified
- ⚠Deep intronic and regulatory region variants outside the targeted area may not be detected
- ⚠This test analyses only the HCN1 gene and does not screen for mutations in other epilepsy-associated genes
- ⚠Results should always be interpreted in conjunction with clinical findings and family history by a qualified geneticist or neurologist
Risks & Considerations
- ●Minor discomfort, bruising, or swelling at the venipuncture site
- ●Small risk of infection at the blood collection site (extremely rare)
- ●Psychological impact of genetic results on the patient and family
- ●Identification of variants of uncertain significance (VUS) may cause anxiety and require further investigation
Interfering Factors
- ●Degraded DNA samples may affect sequencing quality and coverage
- ●Recent blood transfusion within 4 weeks may lead to mixed DNA profiles
- ●Sample contamination during collection or transport
- ●Inadequate sample volume or improper storage conditions
Compare With Similar Tests
| Test | HCN1 Gene Early infantile epileptic encephalopathy type 24 NGS Genetic Test | HCN1 Gene EIEE24 NGS Test | Epilepsy Gene Panel NGS Test | Whole Exome Sequencing (WES) | SCN1A Gene Mutation Test |
|---|---|---|---|---|---|
| Comparison | HCN1 Gene Early infantile epileptic encephalopathy type 24 NGS Genetic Test |
Frequently Asked Questions
What is the HCN1 Gene Early Infantile Epileptic Encephalopathy Type 24 NGS Genetic Test?
Who should get the HCN1 Gene EIEE24 NGS Genetic Test?
What sample is required for the HCN1 Gene EIEE24 NGS Test?
Does the HCN1 Gene EIEE24 NGS Test require fasting?
How much does the HCN1 Gene EIEE24 NGS Genetic Test cost in India?
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Is home sample collection available for this test?
What does a positive result on the HCN1 Gene EIEE24 NGS Test mean?
Can a negative result rule out epileptic encephalopathy?
Is the HCN1 Gene EIEE24 NGS Test available across India?
What is the inheritance pattern of HCN1 gene-related EIEE24?
What files does DNA Labs India provide with the test report?
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