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CHRND Gene Myasthenic syndrome, congenital, type 3B, fast-channel NGS Genetic Test

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CHRND Gene Myasthenic syndrome, congenital, type 3B, fast-channel NGS Genetic Test

Short Name: CHRND Gene CMS Type 3B NGS Test

Also known as: Congenital Myasthenic Syndrome Type 3B, CMS Type 3B Fast-Channel, Fast-Channel Congenital Myasthenic Syndrome, CHRND-Related Congenital Myasthenic Syndrome, CHRND Gene Fast-Channel NGS Test

CHRND Gene Myasthenic syndrome, congenital, type 3B, fast-channel NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation (if required), Copy Number Variation (CNV) Analysis on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are available within 3 to 4 weeks from sample receipt at the laboratory. Reports are delivered via Online Portal, Email, and WhatsApp.. Free home collection in 300+ cities across India.

NeurologistAll Ages🏠 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

This NGS Genetic Test is performed to confirm a clinical diagnosis of congenital myasthenic syndrome type 3B (fast-channel type) by identifying pathogenic or likely pathogenic mutations in the CHRND gene. Accurate molecular diagnosis enables appropriate treatment selection, genetic counselling for families, carrier testing, and informed reproductive planning.

Test Code
1751
CPT Code
81405
ICD Code
G70.2
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Results are available within 3 to 4 weeks from sample receipt at the laboratory. Reports are delivered via Online Portal, Email, and WhatsApp.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger Confirmation (if required), Copy Number Variation (CNV) Analysis
Step 1

Sample Collection

A genetic counselling session is recommended before sample collection to draw a pedigree chart of family members affected with congenital myasthenic syndrome and to discuss the implications of testing.

Method: Venipuncture

Step 2

Laboratory Analysis

A peripheral blood sample (3-5 mL) is collected via venipuncture in an EDTA (lavender top) tube. Alternatively, extracted DNA or one drop of blood on an FTA card may be submitted.

Step 3

Report Delivery

The sample is transported at ambient room temperature to the laboratory. No fasting is required. The patient may resume normal activities immediately after blood collection.

Timeline: Results are available within 3 to 4 weeks from sample receipt at the laboratory. Reports are delivered via Online Portal, Email, and WhatsApp.

Patient Instructions

1
Before the Test:Genetic counselling session to discuss test implications, draw a family pedigree, and obtain informed consent. Provide complete clinical history and previous investigation reports. No fasting required.
2
During the Test:A blood sample (3-5 mL) is drawn via venipuncture into an EDTA tube. The procedure takes approximately 5-10 minutes and involves minimal discomfort.
3
After the Test:Apply gentle pressure at the venipuncture site. No post-procedure restrictions. The sample undergoes NGS analysis in the laboratory.

About This Test

Who Should Get This Test

This NGS Genetic Test is performed to confirm a clinical diagnosis of congenital myasthenic syndrome type 3B (fast-channel type) by identifying pathogenic or likely pathogenic mutations in the CHRND gene. Accurate molecular diagnosis enables appropriate treatment selection, genetic counselling for families, carrier testing, and informed reproductive planning.

How to Prepare

  • Schedule a genetic counselling session before sample collection
  • Provide complete clinical history and family pedigree information
  • Blood sample: 3-5 mL in EDTA (lavender top) tube
  • Alternatively: Extracted DNA or one drop blood on FTA card
  • Sample should be stored and transported at ambient room temperature
  • No fasting required prior to sample collection

Doctor's Notes

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

"Congenital myasthenic syndromes are frequently misdiagnosed as autoimmune myasthenia gravis. An accurate genetic diagnosis through NGS is critical because the treatment approach for fast-channel CMS differs significantly from acquired myasthenia gravis. I recommend this test for any patient presenting with fatigable weakness since early childhood where autoimmune markers are negative."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL peripheral blood in EDTA tube
ContainerEDTA (Lavender Top) tube or FTA Card
Collection MethodVenipuncture

Sample Stability

Whole blood in EDTA at room temperature
Extracted DNA at 2-8°C
Extracted DNA at -20°C
Blood on FTA card at room temperature
Sample Rejection Criteria:
  • Sample collected in heparin tube instead of EDTA tube
  • Clotted or hemolyzed blood sample
  • Insufficient sample volume
  • Sample received without proper labeling or clinical information
  • Severely degraded DNA upon extraction

Understanding Your Results

The results of the CHRND Gene NGS Genetic Test provide molecular confirmation of congenital myasthenic syndrome type 3B (fast-channel type). Results are interpreted in the context of the patient's clinical presentation, family history, and pedigree analysis. A positive result identifying a pathogenic or likely pathogenic variant in the CHRND gene confirms the diagnosis. A negative result does not fully exclude a genetic etiology, and additional genetic testing may be warranted. All results should be reviewed with a qualified geneticist or neurologist.
📊

Confirms the diagnosis of congenital myasthenic syndrome type 3B (fast-channel type) due to CHRND gene mutation. Genetic counselling and targeted treatment planning are recommended. Family members may be offered carrier testing.

📊

A genetic variant in CHRND was identified but current evidence is insufficient to classify it as pathogenic or benign. Correlation with clinical features and family segregation studies may be needed. Periodic reclassification is recommended.

📊

No disease-causing variants were identified in the CHRND gene. This does not completely exclude a genetic basis for the patient's symptoms. Additional testing of other CMS-associated genes or alternative diagnostic approaches may be considered.

📊

The individual carries one pathogenic variant in the CHRND gene. Carrier testing is recommended for reproductive partners. Genetic counselling is advised to discuss inheritance patterns and recurrence risk.

⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if the patient shows signs of fatigable muscle weakness, ptosis, respiratory difficulty, or delayed motor milestones, especially if autoimmune myasthenia gravis markers are negative. After receiving genetic test results, a follow-up consultation is essential for treatment planning, family screening, and genetic counselling.

Limitations

  • ⚠This test may not detect deep intronic variants, large structural rearrangements, or variants in regulatory regions outside the sequenced target
  • ⚠Variants of Uncertain Significance (VUS) may be identified and may require periodic reclassification
  • ⚠This test does not evaluate genes associated with other subtypes of congenital myasthenic syndrome unless specifically included
  • ⚠A negative result does not completely exclude a genetic basis for the patient's symptoms

Risks & Considerations

  • ●Minor bruise or discomfort at the venipuncture site
  • ●Very rare risk of infection at the blood draw site
  • ●Identification of Variants of Uncertain Significance (VUS) may cause anxiety without providing definitive answers
  • ●Possible discovery of incidental genetic findings with potential psychological or familial implications

Interfering Factors

  • ●Degraded or insufficient DNA quality from the sample
  • ●Recent blood transfusion within the past 4 weeks may affect results
  • ●Bone marrow transplant may yield donor DNA instead of patient DNA

Compare With Similar Tests

TestCHRND Gene Myasthenic syndrome, congenital, type 3B, fast-channel NGS Genetic TestAcetylcholine Receptor Antibody TestSingle Gene Sanger Sequencing for CHRNDCongenital Myasthenic Syndrome Gene Panel (Multi-Gene NGS)Electromyography (EMG) with Repetitive Nerve Stimulation
ComparisonCHRND Gene Myasthenic syndrome, congenital, type 3B, fast-channel NGS Genetic Test

Frequently Asked Questions

What is CHRND Gene Myasthenic Syndrome Type 3B (Fast-Channel)?
Congenital Myasthenic Syndrome Type 3B is a rare inherited neuromuscular disorder caused by mutations in the CHRND gene. The CHRND gene encodes the delta subunit of the acetylcholine receptor at the neuromuscular junction. In the fast-channel type, mutations cause the ion channels of the acetylcholine receptor to open abnormally briefly, leading to impaired nerve-to-muscle signal transmission and resulting in muscle weakness and fatigability.
What causes congenital myasthenic syndrome type 3B, fast-channel type?
CMS Type 3B fast-channel type is caused by specific mutations in the CHRND gene, which provides instructions for making the delta (?) subunit of the nicotinic acetylcholine receptor. These mutations alter the function of the receptor ion channel, causing it to open for an abnormally short duration, which reduces the efficiency of neuromuscular signal transmission. The condition is inherited in an autosomal recessive or, less commonly, autosomal dominant pattern.
What are the symptoms of CHRND Gene Myasthenic Syndrome?
Symptoms may include muscle weakness especially in the arms, legs, and eyes (ptosis and ophthalmoplegia), trouble breathing, fatigue, difficulty swallowing (dysphagia), delayed motor development in children, and worsening weakness with physical activity. The severity varies among individuals and can range from mild to life-threatening. Symptoms typically present in infancy or early childhood.
How is congenital myasthenic syndrome type 3B diagnosed?
Diagnosis typically involves a comprehensive physical examination, detailed medical and family history review, electromyography (EMG) with repetitive nerve stimulation to assess neuromuscular junction function, and genetic testing. This NGS Genetic Test confirms the diagnosis by identifying pathogenic mutations in the CHRND gene.
What sample is required for this genetic test?
The test requires a blood sample (3-5 mL collected in an EDTA lavender-top tube), extracted DNA, or one drop of blood on an FTA card. No fasting is required before sample collection. Free home sample collection is available across India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks from the date the sample is received at the laboratory. Reports are delivered through the online portal, email, and WhatsApp for your convenience.
Is this test available across India?
Yes, DNA Labs India offers this NGS Genetic Test with free home sample collection in all major cities across India including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, Ahmedabad, Jaipur, Lucknow, and many more. The test costs a special discounted price of ?20,000.
Is genetic counselling required before taking this test?
Yes, a genetic counselling session is strongly recommended before testing. During this session, a qualified genetic counsellor or geneticist will draw a pedigree chart of family members, discuss the implications of testing, explain the inheritance pattern, and obtain informed consent. Post-test counselling is also provided to help interpret the results.
Can this test be used for carrier testing or prenatal diagnosis?
Yes, once a pathogenic variant is identified in an affected individual, targeted carrier testing can be offered to family members. Prenatal or preimplantation genetic diagnosis may also be possible for known familial variants. Genetic counselling should be obtained to discuss these options.
What is the cost of the CHRND Gene NGS Genetic Test in India?
The CHRND Gene Myasthenic Syndrome Type 3B Fast-Channel NGS Genetic Test is available at DNA Labs India for ?20,000. This cost includes free home sample collection, NGS sequencing, variant classification, and report delivery. A special discounted price is available for online bookings.
Is there a treatment for congenital myasthenic syndrome type 3B?
Treatment depends on the specific genetic subtype. For fast-channel CMS, medications such as 3,4-diaminopyridine (3,4-DAP) and salbutamol have shown benefit in some patients by enhancing neuromuscular transmission. It is important to note that treatments effective for autoimmune myasthenia gravis may not be suitable for CMS. An accurate genetic diagnosis is essential to guide appropriate treatment selection.
Is this test covered under government health schemes or insurance?
Coverage for genetic tests varies by scheme and insurance provider. Currently, PMJAY, CGHS, ECHS, and ESIC may have limited or no coverage for specialized genetic tests. Private insurance coverage depends on individual policy terms and may require pre-authorization. We recommend checking with your insurance provider or scheme office for specific details.
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.

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