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CFL1 Gene Corticobasal Degeneration, CFL1 related NGS Genetic Test

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CFL1 Gene Corticobasal Degeneration, CFL1 related NGS Genetic Test

Short Name: CFL1 CBD NGS Test

Also known as: CFL1 Gene Sequencing, Corticobasal Degeneration NGS Panel, CFL1 Mutation Analysis

CFL1 Gene Corticobasal Degeneration, CFL1 related 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 Results are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAdult🏠 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 disease-causing mutations in the CFL1 gene in individuals suspected of having Corticobasal Degeneration. The results support clinical diagnosis, inform prognosis, guide reproductive and family planning decisions, and enable at-risk family members to consider presymptomatic surveillance.

Test Code
3981
ICD Code
G31.85
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Results are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting required. No special preparation. It is recommended to provide family history and prior clinical records to the genetic counselor before the test.

Method: Venipuncture or Finger Prick

Step 2

Laboratory Analysis

A lanced finger or blood draw from the arm will be performed. For FTA cards, a single drop of blood is applied.

Step 3

Report Delivery

No recovery time needed. Patients can resume normal activities immediately.

Timeline: Results are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:No fasting required. Please share any relevant clinical history, neurological examination findings, and family pedigree details with the genetic counselor.
2
During the Test:A simple blood draw or fingertip prick will be performed. For FTA cards, the blood sample is applied to the card and allowed to dry.
3
After the Test:You may leave immediately after sample collection. No specific aftercare is required.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify disease-causing mutations in the CFL1 gene in individuals suspected of having Corticobasal Degeneration. The results support clinical diagnosis, inform prognosis, guide reproductive and family planning decisions, and enable at-risk family members to consider presymptomatic surveillance.

How to Prepare

  • Use EDTA tube for whole blood collection.
  • For FTA card, apply one drop of blood from a finger prick.
  • Extracted DNA sample must be stored at -20°C.

Doctor's Notes

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

"Comprehensive genetic testing for CFL1 mutations can aid in early diagnosis of corticobasal degeneration and help families understand their inheritance risk."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required for NGS (finger prick or Venipuncture)
ContainerEDTA tube / FTA Card
Collection MethodVenipuncture or Finger Prick

Sample Stability

Whole blood (EDTA) at room temperature: up to 24 hours.
Whole blood (EDTA) at 2-8°C: up to 72 hours.
Extracted DNA at -20°C: 6 months.
FTA card at ambient temperature: 1 year.
Sample Rejection Criteria:
  • Hemolyzed blood sample.
  • Clotted blood sample.
  • Insufficient volume.
  • Sample received >4 weeks after collection.
  • Improperly labeled or misidentified specimen.

Understanding Your Results

This test provides genetic evidence for or against CFL1-related Corticobasal Degeneration. Interpretation is based on the latest ACMG/AMP guidelines and must be correlated with clinical findings.
Negative: No pathogenic variant found. Risk to develop CFL1-related CBD and to transmit to offspring is not reduced to zero but aligns with population risk.
Positive: A pathogenic/likely pathogenic variant in the CFL1 gene has been identified. This confirms the diagnosis at the molecular level and indicates a 50% transmission risk to children.
Variant of Uncertain Significance (VUS): A variant with unknown clinical significance is identified. Additional family studies are required to classify the variant.
Benign/Likely benign: The variant is not associated with disease and does not explain the clinical presentation.
⚠️ When to Consult a Doctor:

If a pathogenic CFL1 variant is detected, a neurologist and genetic counselor should be consulted to discuss disease management, monitoring, and family member screening. If an inconclusive VUS is seen, a genetics professional will guide further evaluation.

Limitations

  • ⚠NGS may not reliably detect large structural rearrangements, repeat expansions, or deep intronic variants
  • ⚠Variants of uncertain significance may be reported; they do not confirm a diagnosis unless family segregation studies support pathogenicity
  • ⚠A negative result does not exclude a clinical diagnosis of CBD, as other genes or environmental factors may be responsible
  • ⚠This test is not intended for screening of the general population

Risks & Considerations

  • ●Bruising or discomfort at the blood draw site
  • ●Light-headedness during needle puncture
  • ●No direct risk from FTA card collection

Interfering Factors

  • ●Low DNA quality or quantity leading to sequencing failure
  • ●Maternal cell contamination in blood samples from recent transplant recipients
  • ●Presence of supernumerary or mosaic variants
  • ●Heparinized blood sample (unsuitable for NGS)
  • ●Sample collected in improper anticoagulant tube

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ComparisonCFL1 Gene Corticobasal Degeneration, CFL1 related NGS Genetic Test

Frequently Asked Questions

What is the CFL1 gene?
The CFL1 gene provides instructions for making cofilin-1, a protein that is critical for regulating actin filament dynamics. Actin filaments are part of the cell's cytoskeleton and are involved in cell shape, movement, and protein trafficking. Mutations in CFL1 have been implicated in certain cases of corticobasal degeneration.
How is Corticobasal Degeneration (CBD) diagnosed?
CBD is diagnosed through a combination of clinical neurological examination, brain imaging such as MRI or PET, neuropsychological testing, and increasingly by genetic testing to identify underlying mutations. The symptoms often mimic Parkinson's disease and other tauopathies, making diagnosis challenging.
What does the CFL1 NGS genetic test detect?
This test uses next-generation sequencing to read the DNA sequence of the CFL1 gene in your sample. It can identify single nucleotide variants, small insertions, and deletions in the CFL1 gene that may be associated with corticobasal degeneration.
Is there any need for fasting before this test?
No, fasting is not required for this genetic test. You can eat and drink normally before sample collection.
How is the sample collected?
A blood sample is drawn from a vein in your arm, or a drop of blood is collected on an FTA card from a finger prick. Alternatively, an extracted DNA sample can also be submitted.
What is the turnaround time for the CFL1 gene test?
You will receive the report within 3 to 4 weeks from the date the sample reaches our laboratory. The exact time may depend on the completeness of the test and the required analysis.
What is the cost of the CFL1 gene NGS test in India?
The cost is approximately INR 20,000. We offer free home sample collection across all major cities in India for this test.
Are there any side effects of the test?
The test is very safe. The only possible discomfort is minor bruising or pain at the blood draw site, which usually resolves within a day. No significant side effects are associated with FTA card collection.
What if I have a family history of CBD?
If you have a first-degree relative diagnosed with CBD or a related tauopathy, genetic testing can help clarify your personal risk. We recommend a consultation with a genetic counselor before undergoing the test to understand the implications.
Will this test determine if I will definitely develop CBD?
If a pathogenic CFL1 mutation is found, it indicates an increased risk or genetic predisposition, but not necessarily that the disease will manifest. Additional genetic and environmental factors may influence disease development. If no mutation is found, it reduces but does not completely exclude the possibility of a genetic cause.
Can this test be done during pregnancy?
The standard blood-based test is suitable for adults, including pregnant women, provided they receive approval from their primary obstetrician. However, prenatal diagnostic testing for genetic mutations requires a more specialized approach such as amniocentesis or chorionic villus sampling, which carries additional risks and must be discussed with a specialist.
Are home sample collection services available?
Yes, we provide free home sample collection for online bookings across India, including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, and over 200 other cities. The service is quick and convenient.
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

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.

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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.

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