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DNA Labs India

FLNC Gene Myopathy, distal type 4 NGS Genetic Test

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FLNC Gene Myopathy, distal type 4 NGS Genetic Test

Short Name: FLNC NGS Test

Also known as: FLNC Myopathy, Distal Type 4 Myopathy, Filamin C Gene Test, FLNC-related Myopathy NGS

FLNC Gene Myopathy, distal type 4 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger sequencing for variant confirmation (if required) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are delivered within 3 to 4 weeks (21-28 working days) after the sample reaches our laboratory. You will receive an SMS/Email notification once the report is ready.. 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 purpose of this NGS genetic test is to identify pathogenic variants in the FLNC gene that cause distal type 4 myopathy. This confirmatory test helps establish a precise molecular diagnosis, differentiate FLNC-related myopathy from other neuromuscular disorders, guide clinical management, and provide essential information for genetic counseling and family planning.

Test Code
4371
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are delivered within 3 to 4 weeks (21-28 working days) after the sample reaches our laboratory. You will receive an SMS/Email notification once the report is ready.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger sequencing for variant confirmation (if required)
Step 1

Sample Collection

No fasting is required. No special preparation is needed. It is advisable to provide a detailed clinical history, family pedigree, and any prior neurological test results. Please carry a valid doctor's referral or prescription if available.

Method: Peripheral venipuncture or finger-prick blood spot on FTA card

Step 2

Laboratory Analysis

A trained phlebotomist will collect 3-5 ml of blood from a vein in your arm. If using an FTA card, a single drop of blood will be obtained from a finger-prick. The procedure is quick and causes minimal discomfort.

Step 3

Report Delivery

You can resume normal activities immediately. There are no food or activity restrictions. For a blood sample, keep the collection site pressure bandage for a few minutes and avoid heavy lifting for 30 minutes.

Timeline: Reports are delivered within 3 to 4 weeks (21-28 working days) after the sample reaches our laboratory. You will receive an SMS/Email notification once the report is ready.

Patient Instructions

1
Before the Test:Please provide complete clinical history and a detailed family pedigree during genetic counseling. No fasting is required. Ensure that consent for genetic testing is properly signed.
2
During the Test:A 10-minute sample collection will be performed. No sedative or radiation exposure is involved. You may feel a short, sharp sensation during venipuncture.
3
After the Test:There is no recovery period. The sample will be processed at our NGS laboratory. Your report will be released in 3-4 weeks and shared via your preferred communication mode.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify pathogenic variants in the FLNC gene that cause distal type 4 myopathy. This confirmatory test helps establish a precise molecular diagnosis, differentiate FLNC-related myopathy from other neuromuscular disorders, guide clinical management, and provide essential information for genetic counseling and family planning.

How to Prepare

  • Blood should be collected in an EDTA (purple top) vacutainer to prevent clotting.
  • Label the sample tube/card with the patient's name, date, and unique ID.
  • If using FTA card, allow the blood spot to air dry completely before placing in the provided envelope.
  • Transport the sample to the laboratory within 24 hours if maintained at room temperature.
  • For extracted DNA, freeze at -20°C and ship on dry ice if possible.

Doctor's Notes

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

"Genetic testing for FLNC myopathy is essential to confirm the clinical diagnosis, guide management, and provide accurate recurrence risk counseling for families."

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 whole blood or 1 drop blood on FTA card or extracted DNA (minimum 1 µg)
ContainerEDTA vacutainer (purple top) or FTA card or sterile DNA tube
Collection MethodPeripheral venipuncture or finger-prick blood spot on FTA card

Sample Stability

Whole blood (EDTA): 4°C for up to 72 hours; room temperature for up to 24 hours.
Extracted DNA: Stable at -20°C for long-term storage (>1 month).
FTA card: Stable at room temperature for several weeks to months.
Sample Rejection Criteria:
  • Hemolyzed, clotted, or improperly labelled samples
  • Sample received in a leaky, broken, or non-sterile container
  • Insufficient blood volume or DNA quantity/quality
  • Samples from patients who have received a blood transfusion within the past 7 days (unless medically necessary)

Understanding Your Results

This NGS panel specifically analyzes the FLNC gene for mutations associated with distal type 4 myopathy. The coding exons and flanking intronic regions are sequenced. Variants are classified using ACMG/AMP guidelines. Results are interpreted alongside clinical history and family pedigree.
📊

Negative

📊

Variant of Unknown Significance (VUS)

📊

Positive

⚠️ When to Consult a Doctor:

If you or a family member have symptoms such as unexplained muscle weakness, difficulty walking or gripping, swallowing problems, or breathing difficulty, consult a neurologist or clinical geneticist. Early genetic diagnosis allows for appropriate symptom management, surveillance, and genetic counseling for the whole family.

Limitations

  • ⚠NGS may not detect deep intronic mutations, large deletions/duplications, repeat expansions, or mitochondrial genome variants.
  • ⚠Imprecise clinical information may affect interpretation.
  • ⚠Variants of unknown significance (VUS) may be reported and require further family studies.
  • ⚠The test diagnoses FLNC-related myopathy but does not predict exact age of onset or severity.

Risks & Considerations

  • ●Minor bruising or pain at the needle insertion site
  • ●Dizziness or lightheadedness during blood draw
  • ●Rare risk of hematoma or infection at the puncture site

Interfering Factors

  • ●Poor quality DNA (degraded or fragmented) can affect sequencing accuracy.
  • ●PCR inhibitors such as heme from hemolyzed blood may interfere with library preparation.
  • ●Recent allogeneic bone marrow transplantation or blood transfusion can cause mixed DNA results.
  • ●Contamination with non-human DNA or another individual's DNA during sample collection.

Frequently Asked Questions

What is FLNC gene myopathy distal type 4?
FLNC gene myopathy, distal type 4, is a rare inherited muscle disease caused by mutations in the FLNC gene. This gene provides instructions for making filamin C, a protein essential for muscle fiber structure. Mutations lead to progressive muscle weakness, typically affecting distal muscles first, and may cause difficulty walking, swallowing, and breathing.
What are the symptoms of FLNC myopathy?
Symptoms include muscle weakness and wasting, especially in the hands, forearms, and lower legs, difficulty walking or running, trouble using fingers and hands, swallowing difficulties, breathing problems, and fatigue. Onset is usually in adulthood but can be in childhood or adolescence. The severity varies from mild to severe disability.
How is FLNC myopathy diagnosed?
Diagnosis is based on clinical examination, family history, elevated serum creatine kinase levels, electromyography (EMG), muscle biopsy, and genetic testing. NGS genetic testing is the most definitive method as it detects disease-causing mutations in the FLNC gene.
What is NGS genetic testing?
Next-Generation Sequencing (NGS) is a high-throughput DNA sequencing technology that can analyze multiple genes simultaneously. For this test, NGS is used to read the entire coding region and flanking intronic sequences of the FLNC gene to identify mutations responsible for distal type 4 myopathy.
Why should I choose this NGS genetic test at DNA Labs India?
DNA Labs India offers this NGS genetic test at a transparent price of INR 20,000. We provide free home sample collection across India and are the only laboratory that shares raw data files (FASTQ, VCF) along with the clinical report, ensuring absolute transparency and accuracy in your genetic testing journey.
What sample is needed for this test?
The test can be performed on a small blood sample collected in an EDTA tube, or a single drop of blood on an FTA card, or isolated DNA from the patient. Our phlebotomist will collect the sample free of cost at your home if you book online.
Do I need to fast before the test?
No, fasting is not required for this genetic test. You can eat and drink normally before sample collection. No special preparation is necessary.
How long does it take to get the results?
The results are usually available within 3 to 4 weeks (21-28 days) after the sample reaches the laboratory. The report will be sent to you via email, WhatsApp, or your online patient portal.
What is the cost of the test at DNA Labs India?
The cost of the FLNC Gene Myopathy, distal type 4 NGS genetic test at DNA Labs India is INR 20,000. This fee includes the NGS analysis, clinical interpretation, and the raw data files. Free home sample collection is included for online bookings.
Can this test identify carriers of the gene mutation?
Yes, NGS analysis can detect heterozygous mutations which indicate carrier status in many autosomal recessive disorders. However, FLNC myopathy is typically inherited in an autosomal dominant manner, meaning one mutated copy can cause the disease. Carrier testing is less relevant, but the test can identify familial mutations for risk assessment.
What do my test results mean?
A negative result means no pathogenic FLNC mutation was found. A positive result indicates a pathogenic or likely pathogenic variant confirming the diagnosis. A VUS means a variant of unknown significance was found; further family studies may be needed. Your genetic counselor will explain the results in detail.
Is genetic counseling recommended before or after the test?
Yes, genetic counseling is strongly recommended both before and after testing. Before testing, a counselor can explain the benefits, limitations, and implications of the test. After receiving the result, counseling helps interpret the findings, discuss family planning, and coordinate care for at-risk relatives.
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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