GUF1 Gene Early infantile epileptic encephalopathy type 40 NGS Genetic Test
Short Name: GUF1 EIEE Type 40 NGS
Also known as: GUF1 Mutation Analysis, EIEE Type 40 Genetic Test, GUF1 Gene Sequencing
GUF1 Gene Early infantile epileptic encephalopathy type 40 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 are issued within 3 to 4 weeks from sample receipt. Urgent reports may be available on request for an additional fee.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of the GUF1 Gene EIEE Type 40 NGS test is to confirm or rule out a genetic mutation in the GUF1 gene that causes Early Infantile Epileptic Encephalopathy Type 40. It is used for diagnostic confirmation in symptomatic infants and children, as well as for carrier testing in at-risk family members. The test helps clinicians choose appropriate treatment and management strategies, provides families with recurrence risk information, and supports family planning decisions.
- Test Code
- 4032
- CPT Code
- 81407
- ICD Code
- G40.5
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are issued within 3 to 4 weeks from sample receipt. Urgent reports may be available on request for an additional fee.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. Please complete the genetic counseling session provided with the test before sample collection. Bring any applicable prior medical records, imaging, or previous genetic reports.
Method: Venipuncture or FTA card spot
Laboratory Analysis
Blood sample will be drawn by a trained phlebotomist. If using FTA card, simply apply a drop of blood from a fingerstick or heelstick. The procedure is quick and causes minimal discomfort.
Report Delivery
No special precautions are necessary. The sample is labeled and transported to the laboratory for analysis. You may resume normal activities immediately.
Timeline: Reports are issued within 3 to 4 weeks from sample receipt. Urgent reports may be available on request for an additional fee.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the GUF1 Gene EIEE Type 40 NGS test is to confirm or rule out a genetic mutation in the GUF1 gene that causes Early Infantile Epileptic Encephalopathy Type 40. It is used for diagnostic confirmation in symptomatic infants and children, as well as for carrier testing in at-risk family members. The test helps clinicians choose appropriate treatment and management strategies, provides families with recurrence risk information, and supports family planning decisions.
How to Prepare
- For blood samples: Use an EDTA vacutainer and ensure proper mixing to prevent clotting.
- For FTA cards: Apply a single blood drop to each designated circle and allow to air dry completely.
- Samples should be transported at room temperature, but avoid extreme heat or humidity.
- Extracted DNA samples should be stored at -20°C until shipping, if possible.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Early diagnosis through genetic testing is critical for management of EIEE type 40. Genetic counseling helps families understand inheritance and recurrence risks."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Incorrectly labeled sample
- Insufficient sample volume
- Sample received after prolonged storage (>7 days at room temperature)
- FTA card damaged or incompletely saturated
Understanding Your Results
Positive (Pathogenic/Likely Pathogenic variant)
Confirms diagnosis of EIEE Type 40. Autosomal recessive inheritance; both parents are obligate carriers unless there is a de novo variant. Genetic counseling is recommended.
Negative (No pathogenic variant)
No GUF1 mutation identified. Other genetic or metabolic causes should be considered. Retesting or broader gene panel may be recommended.
Variant of Uncertain Significance (VUS)
A variant was found that is not yet classified as pathogenic or benign. Further segregation analysis, functional studies, and clinical correlation are needed.
Carrier (single pathogenic variant)
Individual carries one recessive GUF1 mutation. Not affected but at risk of having an affected child if partner is also a carrier.
If your child has any symptoms including recurrent seizures, developmental delay, intellectual disability, microcephaly, or abnormal muscle tone, consult a pediatric neurologist or genetic specialist as early as possible. Early diagnosis and management can significantly improve neurodevelopmental outcomes.
Limitations
- ⚠NGS may not detect all types of mutations (e.g., large deletions, repeat expansions, chromosomal rearrangements)
- ⚠Variant interpretation may yield variants of uncertain significance (VUS) requiring further studies
- ⚠Negative results do not exclude a clinical diagnosis of EIEE type 40 due to possible non-coding mutations or other genes
- ⚠Genetic counseling is essential to explain the limitations and implications of results
Risks & Considerations
- ●No significant physical risks from blood sample collection
- ●Possible bruising or bleeding at the puncture site
- ●Psychological impact of genetic testing results
- ●Finding of variants of uncertain significance leading to anxiety
- ●Potential incidental findings unrelated to the tested gene
Interfering Factors
- ●Poor quality or degraded DNA
- ●Insufficient sample quantity
- ●Contamination from maternal cell contamination in blood samples
- ●Rare sequence variants not covered due to technical limitations
- ●Gene deletions/duplications may not be reliably detected by NGS alone
Compare With Similar Tests
| Test | GUF1 Gene Early infantile epileptic encephalopathy type 40 NGS Genetic Test | ||
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| Comparison | GUF1 Gene Early infantile epileptic encephalopathy type 40 NGS Genetic Test |
Frequently Asked Questions
What is the cost of the GUF1 gene EIEE type 40 NGS test?
What sample is required for the GUF1 gene NGS test?
Is home sample collection available?
How long does it take to get the test report?
What is Early Infantile Epileptic Encephalopathy Type 40?
What is NGS technology?
Will I receive raw data files?
Is genetic counseling included with this test?
What symptoms would require this test?
Can the test be done for any age?
Does insurance cover the cost of this test?
What is the fasting requirement?
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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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