Skip to main content
DNA Labs India

CHAT Gene Myasthenic syndrome, congenital NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

CHAT Gene Myasthenic syndrome, congenital NGS Genetic Test

Short Name: CHAT CMS NGS Test

Also known as: CHAT Gene Congenital Myasthenic Syndrome NGS Test, CHAT Gene Myasthenic Syndrome Sequencing, Congenital Myasthenic Syndrome CHAT Gene Test

CHAT Gene Myasthenic syndrome, congenital 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 generally available in 3 to 4 weeks after sample receipt. Complex variants or additional confirmatory testing may require more time.. Free home collection in 300+ cities across India.

NGS Genetic TestInfants, Children and Adults🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To confirm or exclude a molecular diagnosis of CHAT-related congenital myasthenic syndrome in individuals with compatible clinical features, and to provide a basis for genetic counseling and management.

Test Code
4377
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are generally available in 3 to 4 weeks after sample receipt. Complex variants or additional confirmatory testing may require more time.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A pre-test genetic counselling session is recommended to document clinical history and draw a pedigree of affected family members.

Method: Venipuncture or FTA dried blood spot collection

Step 2

Laboratory Analysis

A blood sample is collected in an EDTA tube, or an FTA card spot is prepared if indicated. The sample is labelled and sent to the laboratory.

Step 3

Report Delivery

You may resume normal activities. The laboratory will extract DNA and perform NGS analysis. The report will be shared after clinical interpretation.

Timeline: Reports are generally available in 3 to 4 weeks after sample receipt. Complex variants or additional confirmatory testing may require more time.

Patient Instructions

1
Before the Test:No fasting is required. The doctor will review clinical history and family history. Genetic counselling is recommended before testing.
2
During the Test:A small blood sample is collected or an FTA card spot is prepared. The procedure is quick and minimally invasive.
3
After the Test:You can resume normal activities immediately. The DNA sample will be processed for NGS analysis.

About This Test

Who Should Get This Test

To confirm or exclude a molecular diagnosis of CHAT-related congenital myasthenic syndrome in individuals with compatible clinical features, and to provide a basis for genetic counseling and management.

How to Prepare

  • No special preparation is required.
  • The sample can be collected at home or at a DNA Labs India collection centre.
  • Consent and family history/pedigree will be recorded before sample collection.

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"A confirmed molecular diagnosis in CHAT-related congenital myasthenic syndrome helps guide pharmacological treatment, anticipatory monitoring and genetic counselling. NGS testing should be interpreted with a validated clinical transcript and correlated with the neuromuscular phenotype."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per laboratory protocol for DNA extraction
ContainerEDTA vacutainer / DNA eluate tube / FTA card
Collection MethodVenipuncture or FTA dried blood spot collection

Sample Stability

Whole blood in EDTA: stable for up to 72 hours at 2-8°C.
Extracted DNA: stable for 1 year at -20°C or below.
FTA card dried blood spot: stable at ambient room temperature for several months.
Sample Rejection Criteria:
  • Improperly labelled sample.
  • Insufficient sample quantity.
  • Clotted or hemolysed blood sample.
  • Use of an incorrect anticoagulant.
  • Sample exposed to extreme heat or showing signs of contamination.

Understanding Your Results

The NGS result is interpreted by clinical geneticists and molecular scientists. The report describes whether a pathogenic or likely pathogenic variant was identified in the CHAT gene and whether the result is consistent with a diagnosis of CHAT-related congenital myasthenic syndrome.
📊

A pathogenic or likely pathogenic variant in the CHAT gene was detected. This result is consistent with CHAT-related congenital myasthenic syndrome and should be correlated with clinical findings.

Result type: Positive

📊

No pathogenic variant was detected in the CHAT gene. If clinical suspicion remains, broader NGS testing for other congenital myasthenic syndrome genes may be considered.

Result type: Negative

📊

A gene variant was found but its clinical significance is not yet clear. Additional family testing and clinical correlation may help determine its role.

Result type: Variant of Uncertain Significance

⚠️ When to Consult a Doctor:

Consult a neurologist and a clinical geneticist if a pathogenic, likely pathogenic, or uncertain result is identified, or if symptoms such as muscle weakness, respiratory difficulty, or feeding difficulty appear.

Limitations

  • ⚠This test analyzes the CHAT gene only; variants in other CMS-related genes are not detected.
  • ⚠Large deletions, duplications, deep intronic variants, and complex structural variants may require additional testing.
  • ⚠A variant of uncertain significance may be reported and require family segregation studies.
  • ⚠A negative result does not exclude all forms of congenital myasthenic syndrome if clinical suspicion remains high.

Risks & Considerations

  • ●Bruising or slight pain at the venipuncture site.
  • ●Very small risk of infection, minimised with standard sterile precautions.
  • ●Possible emotional impact of a genetic result; genetic counselling is recommended.

Interfering Factors

  • ●Contamination of the sample with another person's DNA.
  • ●Insufficient or degraded DNA.
  • ●Incorrect labelling or sample mix-up.
  • ●Recent allogeneic stem cell transplant or blood transfusion may cause mixed DNA results.
  • ●Variants in pseudogene regions or complex structural rearrangements may not be detected by targeted NGS.

Compare With Similar Tests

TestCHAT Gene Myasthenic syndrome, congenital NGS Genetic Test
ComparisonCHAT Gene Myasthenic syndrome, congenital NGS Genetic Test

Frequently Asked Questions

What is CHAT gene congenital myasthenic syndrome?
Congenital myasthenic syndrome (CMS) is a rare inherited disorder of the neuromuscular junction. CHAT-related CMS is caused by mutations in the CHAT gene, which encodes choline acetyltransferase. This enzyme is needed to make acetylcholine, a neurotransmitter that helps nerves signal muscles to contract.
What symptoms are seen in CHAT gene myasthenic syndrome?
Symptoms may include muscle weakness, fatigue, breathing difficulty, swallowing difficulty, facial weakness, ptosis, weak cry, scoliosis and joint contractures. These can appear in infancy or early childhood and may worsen over time.
How is CHAT gene myasthenic syndrome diagnosed?
Diagnosis is made through clinical evaluation, electrophysiological testing such as repetitive nerve stimulation studies, and genetic testing. NGS genetic testing is the most accurate method to confirm the underlying mutation.
Why is NGS genetic testing recommended?
NGS can simultaneously analyze the CHAT gene sequence and may also detect variants in other genes associated with congenital myasthenic syndromes. It is rapid, comprehensive, and provides high-resolution data for precise diagnosis.
What sample is required for this test?
The sample can be whole blood, extracted DNA, or one drop of blood spotted on an FTA card. The laboratory will provide the appropriate collection instructions.
Is fasting required for the test?
No, fasting is not required for the CHAT gene NGS genetic test.
What does the cost of the test include?
The test cost at DNA Labs India is INR 20,000. It includes NGS analysis, clinical interpretation, report, and free home sample collection for online bookings in eligible cities.
How long do the reports take?
Reports are generally available in 3 to 4 weeks after the sample is received by the laboratory.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings. The service is available across major cities including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata and other locations.
Who should get this genetic test?
This test should be considered for individuals with clinical features suggestive of congenital myasthenic syndrome, a family history of a CHAT gene variant, or when a neuromuscular junction disorder is suspected by a neurologist or geneticist.
What does a positive result mean?
A positive result means a pathogenic or likely pathogenic variant was found in the CHAT gene. This supports a diagnosis of CHAT-related congenital myasthenic syndrome and helps guide management and genetic counselling.
What if I get a variant of uncertain significance (VUS) result?
A VUS means a gene variant was found but its disease-causing role is not yet clear. Additional family studies, clinical correlation, and further testing may be required to clarify whether the variant is associated with the condition.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

Related Tests

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
For Hospitals & Clinics

Reference Laboratory Services

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.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.