ENO3 Gene Glycogen storage disease type 13 NGS Genetic Test
Short Name: ENO3 GSD13 NGS Test
Also known as: ENO3 Gene Mutation Analysis, GSD13 Genetic Test, Enolase 3 Deficiency Test, Glycogen Storage Disease Type XIII DNA Test, ENO3 NGS Sequencing Test
ENO3 Gene Glycogen storage disease type 13 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Bioinformatics Analysis, Sanger Confirmation (if required) 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. In some cases, additional confirmatory testing (such as Sanger sequencing for variant confirmation) may extend the turnaround time. Patients will be notified once the report is ready.. 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 ENO3 Gene Glycogen Storage Disease Type 13 NGS Genetic Test is to identify pathogenic mutations in the ENO3 gene that cause glycogen storage disease type 13. This test aids in confirming a clinical diagnosis of GSD13, differentiating it from other glycogen storage diseases, enabling carrier identification in family members, guiding treatment and dietary management strategies, informing genetic counselling for family planning decisions, and facilitating prenatal or preimplantation genetic diagnosis where applicable.
- Test Code
- 2030
- CPT Code
- 81479
- ICD Code
- E74.0
- 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. In some cases, additional confirmatory testing (such as Sanger sequencing for variant confirmation) may extend the turnaround time. Patients will be notified once the report is ready.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Bioinformatics Analysis, Sanger Confirmation (if required)
Sample Collection
A genetic counselling session is recommended before sample collection to document the clinical history of the patient and to draw a pedigree chart of family members affected with glycogen storage disease type 13. No fasting is required. Ensure the patient has not received a blood transfusion within the past 4 weeks.
Method: Venipuncture / FTA Card Prick
Laboratory Analysis
Blood sample (3-5 mL) is collected via venipuncture in an EDTA (lavender top) vacutainer. Alternatively, one drop of blood on an FTA card or previously extracted DNA may be submitted. The sample should be labelled correctly with patient details.
Report Delivery
The collected sample should be stored at ambient room temperature and transported to the laboratory within 48 hours. Avoid freezing the sample. Results will be available within 3 to 4 weeks and will be communicated via the online portal, email, or WhatsApp.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. In some cases, additional confirmatory testing (such as Sanger sequencing for variant confirmation) may extend the turnaround time. Patients will be notified once the report is ready.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the ENO3 Gene Glycogen Storage Disease Type 13 NGS Genetic Test is to identify pathogenic mutations in the ENO3 gene that cause glycogen storage disease type 13. This test aids in confirming a clinical diagnosis of GSD13, differentiating it from other glycogen storage diseases, enabling carrier identification in family members, guiding treatment and dietary management strategies, informing genetic counselling for family planning decisions, and facilitating prenatal or preimplantation genetic diagnosis where applicable.
How to Prepare
- Collect 3-5 mL of venous blood in an EDTA (lavender top) vacutainer
- Alternatively, one drop of blood on an FTA card is acceptable
- Previously extracted DNA (minimum 1 microgram) may also be submitted
- Label the sample with the patient's full name, date of birth, and unique ID
- Do not use heparin-treated tubes as they may interfere with NGS
- Ensure the sample is transported at ambient room temperature within 48 hours
- Avoid haemolysed or lipemic samples
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Glycogen Storage Disease Type 13 is a rare metabolic disorder caused by mutations in the ENO3 gene. Patients presenting with unexplained hypoglycemia, hepatomegaly, cardiomegaly, or muscle weakness in early childhood should be evaluated with NGS-based genetic testing. Early identification through molecular diagnosis enables timely dietary management and monitoring of cardiac and hepatic function, which are critical for improving patient outcomes. Families with a history of metabolic disorders should consider genetic counselling and cascade testing."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample collected in heparin tubes
- Haemolysed or severely lipemic blood samples
- Insufficient sample volume
- Sample received more than 7 days after collection without proper refrigeration
- Unlabelled or mislabelled samples
- Blood samples collected within 4 weeks of a blood transfusion
Understanding Your Results
Pathogenic or Likely Pathogenic variant(s) detected in ENO3 gene
Confirms a molecular diagnosis of Glycogen Storage Disease Type 13. Homozygous or compound heterozygous pathogenic variants are consistent with autosomal recessive GSD13. Clinical correlation and further metabolic workup are recommended. Family members should be offered carrier testing.
Variant of Uncertain Significance (VUS) detected
A variant was identified in the ENO3 gene, but there is currently insufficient evidence to classify it as pathogenic or benign. Clinical correlation, parental testing, and functional studies may be needed for reclassification. Repeat genetic counselling is advised.
No pathogenic variant detected
No disease-causing mutations were identified in the ENO3 gene by NGS. This result does not completely exclude GSD13, as mutations may lie in non-coding regulatory regions or large structural variants not detected by this method. If clinical suspicion remains high, additional testing such as biochemical enzyme assays or whole-exome sequencing should be considered.
Carrier status (heterozygous pathogenic variant)
A single pathogenic variant in the ENO3 gene was detected, consistent with carrier status for GSD13. The individual is typically asymptomatic but may pass the variant to offspring. Genetic counselling and partner testing are recommended for family planning.
Consult a healthcare provider or genetic specialist if your child or a family member exhibits symptoms such as unexplained low blood sugar levels, enlarged liver or heart, muscle weakness, exercise intolerance, delayed growth, or difficulty gaining weight. If the test result identifies a pathogenic variant or a VUS, seek genetic counselling to understand the implications and discuss management and family planning options.
Limitations
- ⚠This test does not detect large genomic rearrangements, copy number variations, or deep intronic variants unless specifically designed for
- ⚠Variants of Uncertain Significance (VUS) may be identified and may require further familial segregation analysis
- ⚠A negative result does not completely rule out GSD13 if caused by mutations outside the tested regions
- ⚠This test is not a substitute for biochemical enzyme activity assays where clinically indicated
Risks & Considerations
- ●Minor bruising or discomfort at the blood collection site
- ●Rare risk of infection at the puncture site
- ●Emotional impact of genetic test results on the patient and family
- ●Identification of Variants of Uncertain Significance (VUS) may cause anxiety without a definitive clinical interpretation
Interfering Factors
- ●Degraded or insufficient DNA quality in the sample
- ●Recent blood transfusion within the past 4 weeks may affect results
- ●Contamination during sample collection or transport
- ●Heparin-treated blood samples are not suitable and may interfere with NGS
Compare With Similar Tests
| Test | ENO3 Gene Glycogen storage disease type 13 NGS Genetic Test | Whole Exome Sequencing (WES) | G6PC Gene NGS Genetic Test (GSD Type 1) |
|---|---|---|---|
| Comparison | ENO3 Gene Glycogen storage disease type 13 NGS Genetic Test |
Frequently Asked Questions
What is Glycogen Storage Disease Type 13 (GSD13)?
What causes GSD13?
What are the symptoms of GSD13?
How is the ENO3 Gene NGS Genetic Test performed?
What sample is required for this test?
How long does it take to get the test results?
What is the cost of the ENO3 Gene NGS Genetic Test in India?
Is genetic counselling required before taking this test?
Can GSD13 be treated or managed after diagnosis?
What does a negative test result mean?
Is home sample collection available for this test?
Can this test be used for prenatal diagnosis of GSD13?
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