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CFL2 Gene Nemaline myopathy type 7 NGS Genetic Test

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CFL2 Gene Nemaline myopathy type 7 NGS Genetic Test

Short Name: CFL2 Nemaline Myopathy NGS Test

Also known as: Nemaline Myopathy Type 7 Genetic Test, CFL2 Gene Analysis

CFL2 Gene Nemaline myopathy type 7 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 3 to 4 Weeks. Free home collection in 300+ cities across India.

Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to diagnose Nemaline Myopathy Type 7 by detecting mutations in the CFL2 gene, confirming genetic etiology for symptoms like muscle weakness and respiratory issues, and aiding in genetic counseling and family planning.

Test Code
1763
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Clinical history of patient and genetic counseling session to draw a pedigree chart of family members affected with CFL2 Gene Nemaline myopathy type 7.

Method: Blood sample

Step 2

Laboratory Analysis

Standard blood draw procedure from a vein in the arm.

Step 3

Report Delivery

No specific aftercare; standard precautions for blood draw.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling recommended to understand implications and family history.
2
During the Test:Blood sample collection via venipuncture.
3
After the Test:Results available in 3-4 weeks; genetic counseling advised for interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose Nemaline Myopathy Type 7 by detecting mutations in the CFL2 gene, confirming genetic etiology for symptoms like muscle weakness and respiratory issues, and aiding in genetic counseling and family planning.

How to Prepare

  • Fast not required
  • Bring ID and prescription if available
  • Ensure sample is properly labeled

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing for Nemaline myopathy can confirm diagnosis, guide family planning, and inform management strategies for affected individuals."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
Collection MethodBlood sample

Sample Stability

Blood: 24-48 hours at room temperature
Extracted DNA: stable for longer periods
Sample Rejection Criteria:
  • Hemolyzed sample
  • Incorrect labeling
  • Insufficient sample volume

Understanding Your Results

Results are interpreted based on the presence of mutations in the CFL2 gene, which can be pathogenic, benign, or of uncertain significance.
Positive for pathogenic mutation: Confirms diagnosis of Nemaline Myopathy Type 7
Negative: No pathogenic mutation detected; consider other causes
Variant of uncertain significance: Requires further testing and clinical correlation
⚠️ When to Consult a Doctor:

If symptoms such as muscle weakness, respiratory issues, or developmental delays are present, or if there is a family history of nemaline myopathy.

Limitations

  • ⚠Does not detect all possible mutations in the CFL2 gene
  • ⚠Requires genetic counseling for interpretation
  • ⚠Not suitable for prenatal diagnosis without additional validation

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Slight risk of infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Inadequate DNA quantity

Frequently Asked Questions

What is Nemaline Myopathy Type 7?
Nemaline Myopathy Type 7 is a rare genetic disorder caused by mutations in the CFL2 gene, leading to muscle weakness, respiratory problems, and other developmental issues.
What does the CFL2 Gene NGS Test detect?
This test uses Next-Generation Sequencing to identify mutations in the CFL2 gene that cause Nemaline Myopathy Type 7.
Who should consider this genetic test?
Individuals with symptoms like muscle weakness, difficulty breathing, delayed motor skills, or a family history of nemaline myopathy should consider this test.
How is the test performed?
A blood sample is collected and analyzed using NGS technology to sequence the CFL2 gene for mutations.
What is the cost of the CFL2 Gene NGS Test?
The test costs INR 20000 at DNA Labs India, inclusive of analysis and report.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result confirms the presence of a pathogenic mutation in the CFL2 gene, diagnosing Nemaline Myopathy Type 7.
Is genetic counseling required before the test?
Genetic counseling is recommended to understand the test implications, family history, and result interpretation.
Can this test be used for prenatal diagnosis?
This test is primarily for postnatal diagnosis; prenatal applications require additional validation and counseling.
What are the risks associated with the test?
Risks are minimal, including minor bruising from blood draw and potential psychological impact of genetic results.
How accurate is the CFL2 Gene NGS Test?
The test is highly accurate due to advanced NGS technology, but genetic counseling is advised for comprehensive interpretation.
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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For Hospitals & Clinics

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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.

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