ETFDH Gene Glutaric acidemia type 2C NGS Genetic Test
Short Name: ETFDH GA2C NGS Test
Also known as: ETFDH Gene Sequencing Test, Glutaric Acidemia Type IIC Genetic Test, MADD Type 3 Genetic Test, Multiple Acyl-CoA Dehydrogenase Deficiency Type 3 NGS Test, Electron Transfer Flavoprotein Dehydrogenase Gene Test
ETFDH Gene Glutaric acidemia type 2C NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation of Variants, Bioinformatic Analysis and Variant Classification 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.. 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 ETFDH Gene Glutaric acidemia type 2C NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the ETFDH gene that cause glutaric acidemia type 2C. This test is used to confirm a clinical or biochemical diagnosis of GA2C, determine carrier status in family members, guide treatment decisions including riboflavin therapy and dietary management, enable prenatal or preimplantation genetic diagnosis in at-risk families, and provide accurate genetic counselling regarding recurrence risk and prognosis.
- Test Code
- 4690
- CPT Code
- 81479
- ICD Code
- E71.318
- 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.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation of Variants, Bioinformatic Analysis and Variant Classification
Sample Collection
No special preparation such as fasting is required. A genetic counselling session is recommended prior to sample collection to document the clinical history and draw a pedigree chart of family members affected with glutaric acidemia type 2C.
Method: Venipuncture / Finger-prick (FTA Card)
Laboratory Analysis
A peripheral blood sample of 3-5 mL is collected via venipuncture into an EDTA (lavender top) tube. Alternatively, one drop of blood can be collected on an FTA card. The procedure takes approximately 5-10 minutes.
Report Delivery
Apply gentle pressure to the venipuncture site with a cotton ball or gauze for 3-5 minutes. Avoid heavy lifting with the affected arm for the remainder of the day. No specific post-collection restrictions are required.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the ETFDH Gene Glutaric acidemia type 2C NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the ETFDH gene that cause glutaric acidemia type 2C. This test is used to confirm a clinical or biochemical diagnosis of GA2C, determine carrier status in family members, guide treatment decisions including riboflavin therapy and dietary management, enable prenatal or preimplantation genetic diagnosis in at-risk families, and provide accurate genetic counselling regarding recurrence risk and prognosis.
How to Prepare
- Ensure the sample is collected in an EDTA (lavender top) tube or on an FTA card
- Label the sample clearly with the patient's full name, date of birth, and sample collection date
- Store the blood sample at ambient room temperature (15-30°C) until dispatch
- Ship the sample to the laboratory within 48 hours of collection
- Include the completed test requisition form and signed consent form with the sample
- If using an FTA card, allow the blood spot to air-dry completely before placing in the protective envelope
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Glutaric acidemia type 2C can present with a wide clinical spectrum, from severe neonatal metabolic crises to milder adult-onset myopathy. When there is a clinical suspicion—such as recurrent hypoglycemia, elevated acylcarnitines, or a family history of metabolic disease—molecular confirmation through ETFDH gene sequencing is essential. This test not only confirms the diagnosis but also enables cascade carrier testing in the family and informs reproductive counselling. I recommend this test for any patient with biochemical markers suggestive of multiple acyl-CoA dehydrogenase deficiency and for couples with a known family history who are planning a pregnancy."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received without proper patient identification or labelling
- Clotted or haemolysed blood sample in EDTA tube
- Insufficient sample volume for DNA extraction
- Sample received without completed requisition or consent form
- Contaminated or leaking sample container
Understanding Your Results
No disease-causing mutations were identified in the ETFDH gene. This result reduces the likelihood of GA2C but does not completely exclude it if clinical suspicion remains high. Further evaluation including biochemical testing and consideration of other genes (ETFA, ETFB) may be warranted.
Two copies of the same pathogenic variant were identified, consistent with an autosomal recessive inheritance pattern. This finding confirms the molecular diagnosis of glutaric acidemia type 2C. Genetic counselling and initiation of appropriate management are recommended.
Two different pathogenic variants were identified on separate alleles of the ETFDH gene. This is consistent with a molecular diagnosis of GA2C. Parental testing may be recommended to confirm the trans configuration of variants.
One pathogenic variant was identified. The patient may be a carrier of GA2C. A second variant may be present in a region not covered by this test, or the patient may be an unaffected carrier. Clinical correlation and parental testing are recommended.
A variant was identified whose clinical significance is currently unknown. This result is not diagnostic. Clinical correlation, family studies, and periodic re-evaluation as new scientific data become available are recommended.
Consult your doctor or genetic counsellor if the test reveals any pathogenic or likely pathogenic variants, if a variant of uncertain significance is identified, if clinical symptoms persist despite a negative result, or if you need guidance regarding family planning, prenatal testing, or management of an affected individual. Urgent consultation is recommended for neonates or infants presenting with metabolic crises, hypoglycemia, or unexplained lethargy.
Limitations
- ⚠This test does not detect deep intronic variants, regulatory region mutations, or mitochondrial DNA variants
- ⚠Large structural rearrangements may not be fully detected by NGS alone and may require additional methods such as MLPA
- ⚠A negative result does not completely exclude GA2C if caused by variants in non-coding regions or other genes (ETFA, ETFB)
- ⚠Variants of uncertain significance (VUS) may be identified and require periodic reclassification as new evidence emerges
- ⚠This test is not a substitute for biochemical testing such as acylcarnitine profile or urine organic acid analysis
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site
- ●Very rare risk of infection at the puncture site
- ●Psychological or emotional impact of genetic test results on the patient and family
- ●Possibility of identifying variants of uncertain significance that may cause anxiety
Interfering Factors
- ●Degraded or insufficient DNA quality may affect sequencing accuracy and coverage
- ●Recent blood transfusion within the past 4 weeks may lead to mixed DNA profiles
- ●Contamination of the sample during collection or transport
- ●Presence of pseudogenes or homologous sequences may require additional confirmation by Sanger sequencing
Compare With Similar Tests
| Test | ETFDH Gene Glutaric acidemia type 2C NGS Genetic Test | Acylcarnitine Profile (Blood) | Urine Organic Acid Analysis | Sanger Sequencing of ETFDH Gene | Whole Exome Sequencing (WES) |
|---|---|---|---|---|---|
| Comparison | ETFDH Gene Glutaric acidemia type 2C NGS Genetic Test |
Frequently Asked Questions
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