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CHKB Gene Muscular dystrophy, congenital, megaconial type NGS Genetic Test

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CHKB Gene Muscular dystrophy, congenital, megaconial type NGS Genetic Test

Short Name: CHKB Gene NGS Test

Also known as: CHKB-related congenital muscular dystrophy, Megaconial congenital muscular dystrophy, CHKB gene mutation test

CHKB Gene Muscular dystrophy, congenital, megaconial type NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger sequencing for variant confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are typically available in 3 to 4 weeks after the sample reaches the laboratory. In urgent cases, expedited processing may be available on request.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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

The primary purpose of this NGS genetic test is to identify disease-causing variants in the CHKB gene associated with congenital muscular dystrophy, megaconial type. This helps confirm the clinical diagnosis, differentiate from other congenital myopathies, inform prognosis, and allow genetic counseling for recurrence risk assessment in affected families.

Test Code
4350
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically available in 3 to 4 weeks after the sample reaches the laboratory. In urgent cases, expedited processing may be available on request.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger sequencing for variant confirmation
Step 1

Sample Collection

Clinical History of Patient who is going for CHKB Gene Muscular dystrophy, congenital, megaconial type NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CHKB Gene Muscular dystrophy, congenital, megaconial type.

Method: Peripheral blood collection, DNA extraction, or FTA card blood spot

Step 2

Laboratory Analysis

Peripheral blood sample is collected by a trained phlebotomist. For FTA card, a few drops of blood are applied to the designated circles and allowed to air dry.

Step 3

Report Delivery

The sample is labeled and shipped to the laboratory at room temperature. FTA cards are stable for several months. Blood samples should reach the laboratory within 48 hours.

Timeline: Reports are typically available in 3 to 4 weeks after the sample reaches the laboratory. In urgent cases, expedited processing may be available on request.

Patient Instructions

1
Before the Test:A genetic counseling session is recommended to understand the clinical implications, limitations, and benefits of the test. The clinician will draw a three-generation pedigree chart and document family history.
2
During the Test:The sample (blood or FTA card) is obtained quickly and painlessly. No special preparation is required. You can continue all regular medications unless advised otherwise by your physician.
3
After the Test:You will receive your report via email/portal within 3 to 4 weeks. A genetic counselor will schedule a post-test counseling session to explain the results and discuss next steps.

About This Test

Who Should Get This Test

The primary purpose of this NGS genetic test is to identify disease-causing variants in the CHKB gene associated with congenital muscular dystrophy, megaconial type. This helps confirm the clinical diagnosis, differentiate from other congenital myopathies, inform prognosis, and allow genetic counseling for recurrence risk assessment in affected families.

How to Prepare

  • Notify the lab if the patient has undergone a blood transfusion in the past 72 hours
  • Fasting is not required but drink adequate water before blood collection
  • Provide a copy of the clinical history and pedigree chart
  • Carry any prior muscle biopsy or laboratory reports for correlation

Doctor's Notes

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

"Genetic testing is essential for confirming the clinical diagnosis of congenital muscular dystrophy, guiding treatment and rehabilitation planning, and enabling accurate genetic counseling for the family. The CHKB gene NGS test provides a precise molecular diagnosis for affected patients."

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 blood or 1 drop on FTA card
ContainerEDTA vacutainer / FTA card / DNA elution tube
Collection MethodPeripheral blood collection, DNA extraction, or FTA card blood spot

Sample Stability

Whole blood (EDTA)
Extracted DNA
FTA card blood spot
Sample Rejection Criteria:
  • Hemolysed or clotted blood sample
  • Insufficient sample volume
  • Improperly labeled or unlabeled sample
  • Sample transported in leaky or inappropriate container
  • Samples received after prolonged delay (more than 5 days at ambient temperature)

Understanding Your Results

The genetic test report is interpreted by a clinical geneticist and correlated with the patient's clinical presentation. The presence of a pathogenic or likely pathogenic variant in the CHKB gene confirms the diagnosis of congenital muscular dystrophy, megaconial type. In the absence of a clear pathogenic variant, a negative result does not rule out the condition.
📊

Confirms the clinical diagnosis; appropriate management and family screening recommended

📊

Highly suggestive of the diagnosis; family studies may help establish segregation

📊

Insufficient evidence to determine clinical significance; further investigations or functional assays may be needed

📊

No evidence of disease association; alternative genetic cause should be considered

⚠️ When to Consult a Doctor:

If your child or loved one shows early signs of muscle weakness, hypotonia, delayed motor milestones, or difficulty in swallowing or breathing, consult a neurologist. Early diagnosis and genetic testing can help in the management and planning of multidisciplinary care.

Limitations

  • ⚠NGS may not detect all types of mutations, such as large structural variants, repeat expansions, or deep intronic variations
  • ⚠Variant of uncertain significance may be reported; additional family studies may be required
  • ⚠Negative result does not exclude a genetic cause, as mutations in other genes can mimic CHKB-related muscular dystrophy
  • ⚠This test is not intended for prenatal diagnosis unless specifically validated
  • ⚠Bone marrow transplantation or recent blood transfusion can affect DNA analysis

Risks & Considerations

  • ●There are no significant physical risks associated with blood sample collection
  • ●Minimal pain or bruising may occur at the puncture site
  • ●Psychological impact of the result, which is addressed through genetic counseling

Interfering Factors

  • ●Insufficient or degraded DNA sample
  • ●Hemolyzed blood sample
  • ●Maternal cell contamination in prenatal samples
  • ●Presence of homologous gene sequences (pseudogenes) affecting accuracy
  • ●Sample mix-up or labeling errors

Compare With Similar Tests

TestCHKB Gene Muscular dystrophy, congenital, megaconial type NGS Genetic TestCHKB Gene NGS TestCongenital Muscular Dystrophy PanelMuscular Dystrophy Comprehensive Panel
ComparisonCHKB Gene Muscular dystrophy, congenital, megaconial type NGS Genetic Test

Frequently Asked Questions

What is the CHKB gene muscular dystrophy congenital megaconial type?
It is a rare inherited muscle disorder caused by mutations in the CHKB gene, leading to mitochondrial abnormalities in skeletal muscle, characterized by hypotonia, weakness, and delayed development.
What are the common symptoms of this condition?
Common symptoms include muscle weakness, poor muscle tone, delayed motor milestones, difficulty walking or climbing stairs, and in severe cases, cardiac and respiratory complications.
How is this disease diagnosed?
Diagnosis involves clinical evaluation, elevated serum CK, muscle biopsy showing megaconial mitochondria, and confirmation by genetic testing through NGS analysis of the CHKB gene.
What is the cost of the CHKB gene NGS genetic test?
At DNA Labs India, the cost is INR 20,000, which includes home sample collection, genetic counseling, and a comprehensive report.
Which sample is required for the test?
Blood (EDTA), extracted DNA, or one drop of blood on an FTA card can be used for the test.
How long does it take to get the results?
The turnaround time is 3 to 4 weeks from the date of sample receipt at the laboratory.
Does this test detect all types of CHKB mutations?
NGS detects single nucleotide variants, small insertions/deletions, and splice-site mutations. Large deletions may require additional analysis, which is included in this test when requested.
Is genetic counseling necessary before the test?
Yes, a genetic counseling session is included to draw a pedigree chart and discuss the implications of testing, as it helps interpret results appropriately and plan further management.
Can this test be done during pregnancy?
This test is primarily for diagnosis in affected individuals. Prenatal testing requires specific validation and is not recommended without prior customization.
Are there any risks associated with the test?
The test involves standard blood collection, which carries minimal risk such as mild pain or bruising. There are no other physical risks.
Is the test covered by insurance?
Insurance coverage varies. It is advisable to check with your insurance provider. DNA Labs India does not directly bill insurance companies.
What should I do if the result is negative?
A negative result does not completely rule out muscular dystrophy. Your doctor may recommend broader genetic testing or further clinical evaluation to identify the underlying cause.
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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