COLQ Gene Endplate acetylcholinesterase deficiency NGS Genetic Test
Short Name: COLQ Endplate AChE Deficiency NGS Test
Also known as: Endplate AChE Deficiency Genetic Testing, COLQ-Related Congenital Myasthenic Syndrome NGS Test, COLQ Gene Mutation Analysis
COLQ Gene Endplate acetylcholinesterase deficiency 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 usually available within 3 to 4 weeks from sample receipt.. 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 this test is to confirm or exclude a genetic cause of endplate acetylcholinesterase deficiency by identifying pathogenic variants in the COLQ gene. NGS methodology allows sequencing of all coding regions and splice sites in a single workflow. This test is useful in patients with suspected congenital myasthenic syndrome, particularly when electrophysiological studies or muscle biopsy suggest an endplate defect. The result helps clinicians tailor treatment and provides accurate recurrence risk information for families.
- Test Code
- 4063
- ICD Code
- G70.2
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are usually available within 3 to 4 weeks from sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation or fasting is needed. A pre-test genetic counselling session is recommended to obtain family history, draw a pedigree chart, and explain the scope and limitations of the test.
Method: Venipuncture or FTA card blood spot
Laboratory Analysis
A healthcare professional will collect blood in an EDTA vacutainer. Alternatively, a blood spot can be placed on an FTA card.
Report Delivery
You may return to regular activities immediately. The sample is sent to the laboratory for DNA extraction and NGS analysis.
Timeline: Reports are usually available within 3 to 4 weeks from sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm or exclude a genetic cause of endplate acetylcholinesterase deficiency by identifying pathogenic variants in the COLQ gene. NGS methodology allows sequencing of all coding regions and splice sites in a single workflow. This test is useful in patients with suspected congenital myasthenic syndrome, particularly when electrophysiological studies or muscle biopsy suggest an endplate defect. The result helps clinicians tailor treatment and provides accurate recurrence risk information for families.
How to Prepare
- No fasting is required.
- Genetic counselling and informed consent are advised.
- Sample should be labelled correctly and accompanied by a test requisition form.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"When the clinical picture and electrophysiological studies point to a COLQ-related neuromuscular junction defect, targeted NGS testing of the COLQ gene is a precise and cost-effective approach. A confirmed genetic diagnosis helps guide treatment and provides important information for reproductive planning and family counselling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolysed or clotted blood sample
- Insufficient sample quantity
- Incorrectly labelled sample
- Sample received without consent or counselling documentation
Understanding Your Results
Confirms the diagnosis of COLQ-related endplate acetylcholinesterase deficiency.
Further family segregation studies or functional analysis may be required to clarify its role.
Reduces the likelihood of COLQ-related disorder but does not completely exclude it.
Consult a neurologist or clinical geneticist if you or your child has fatigable muscle weakness, respiratory or bulbar symptoms, or if the test result is abnormal.
Limitations
- ⚠NGS may not detect large structural rearrangements, deep intronic changes, or promoter variants in COLQ.
- ⚠This test does not evaluate other genes associated with congenital myasthenic syndrome.
- ⚠A negative result does not completely eliminate the possibility of COLQ-related disease.
Risks & Considerations
- ●No significant medical risks.
- ●Mild discomfort or bruising at the venipuncture site.
- ●Rare risk of fainting or dizziness during blood collection.
Interfering Factors
- ●Allogeneic bone marrow transplant or recent blood transfusion may affect results in blood samples.
- ●DNA degradation due to prolonged storage or exposure to heat.
- ●Cross-contamination during sample collection or processing.
Compare With Similar Tests
| Test | COLQ Gene Endplate acetylcholinesterase deficiency NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | COLQ Gene Endplate acetylcholinesterase deficiency NGS Genetic Test |
Frequently Asked Questions
What is tested in this COLQ NGS genetic test?
Who should take this test?
What type of sample is required?
Is fasting required for this test?
How long do reports take?
What does a pathogenic variant result mean?
What does no pathogenic variant detected mean?
Can some variants be reported as uncertain significance?
Does this test detect all genetic causes of congenital myasthenic syndrome?
Does the test require a genetic counselling session?
Is home sample collection available?
What is the cost of the test?
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