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DNA Labs India

FLNA Gene Otopaladigital syndrome type 1 NGS Genetic Test

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FLNA Gene Otopaladigital syndrome type 1 NGS Genetic Test

Short Name: FLNA OPD1 NGS Test

Also known as: OPD1 Syndrome Test, FLNA Mutation Analysis, Otopaladigital Syndrome Type 1 Genetic Test

FLNA Gene Otopaladigital syndrome type 1 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.

NGS Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of the FLNA Gene Otopaladigital Syndrome Type 1 NGS Genetic Test is to identify mutations in the FLNA gene that cause Otopaladigital Syndrome Type 1. This aids in accurate diagnosis, guides treatment planning, facilitates genetic counseling, and supports family planning decisions.

Test Code
2344
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

No specific preparation is required. Provide clinical history and family pedigree as advised during genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample via venipuncture or prepare an FTA card with a blood drop. The process is quick and minimally invasive.

Step 3

Report Delivery

Apply pressure to the puncture site with a cotton ball to prevent bruising. Resume normal activities immediately.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Attend a genetic counseling session to discuss the test implications and provide a detailed family history. No fasting or special preparation is needed.
2
During the Test:A small blood sample is drawn from a vein in the arm. The procedure takes about 5-10 minutes and is performed by a certified professional.
3
After the Test:Results are available in 3-4 weeks. You will be notified via your preferred method. Schedule a follow-up with a genetic counselor to discuss findings.

About This Test

Who Should Get This Test

The purpose of the FLNA Gene Otopaladigital Syndrome Type 1 NGS Genetic Test is to identify mutations in the FLNA gene that cause Otopaladigital Syndrome Type 1. This aids in accurate diagnosis, guides treatment planning, facilitates genetic counseling, and supports family planning decisions.

How to Prepare

  • Ensure the sample is labeled correctly with patient details
  • Use sterile equipment to avoid contamination
  • Store blood samples at room temperature and transport to the lab within 48 hours
  • For FTA cards, follow manufacturer instructions for blood application

Doctor's Notes

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

"NGS-based testing for the FLNA gene is crucial for confirming Otopaladigital Syndrome Type 1, enabling targeted management and family counseling. Early detection improves patient outcomes."

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 of blood or as per DNA extraction
ContainerEDTA tube for blood; FTA card for drop blood
Collection MethodVenipuncture

Sample Stability

Whole blood: Stable at room temperature for up to 48 hours
Extracted DNA: Stable at -20°C for long-term storage
FTA card samples: Stable at room temperature for several days if stored properly
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or hemolyzed samples
  • Incorrect sample type or container
  • Missing patient identification or consent forms

Understanding Your Results

Results from the FLNA Gene Otopaladigital Syndrome Type 1 NGS Genetic Test indicate the presence or absence of pathogenic mutations in the FLNA gene. A positive result confirms the diagnosis and guides management, while a negative result may require further testing or clinical correlation.
📊

Positive for Pathogenic Mutation

Confirms diagnosis of Otopaladigital Syndrome Type 1. Recommend genetic counseling and multidisciplinary care.

📊

Negative for Pathogenic Mutation

No known pathogenic variants detected. Clinical symptoms may be due to other genetic or environmental factors. Consider additional testing.

📊

Variant of Uncertain Significance (VUS)

A genetic variant with unknown clinical significance. Requires periodic re-evaluation and correlation with clinical findings.

⚠️ When to Consult a Doctor:

Consult a geneticist or ENT specialist if you or your child show symptoms such as ear abnormalities, digit anomalies, or cleft palate. Also, seek advice for family planning if there is a known family history of the syndrome.

Limitations

  • May not detect all types of genetic mutations, such as large deletions or insertions
  • Results require interpretation by a genetic counselor or specialist
  • Does not predict disease severity or progression
  • Limited to analysis of the FLNA gene; other genetic causes not evaluated

Risks & Considerations

  • Minor bruising or discomfort at the blood draw site
  • Psychological stress from test results, especially if positive
  • Very low risk of infection at puncture site

Interfering Factors

  • Contaminated or degraded DNA sample
  • Incorrect sample collection or handling
  • Hemolyzed blood samples
  • Use of certain medications that affect DNA integrity (rare)

Frequently Asked Questions

What is the FLNA Gene Otopaladigital Syndrome Type 1 NGS Genetic Test?
It is a next-generation sequencing test that analyzes the FLNA gene to detect mutations causing Otopaladigital Syndrome Type 1, a rare genetic disorder affecting ears, fingers, toes, and palate.
Who should consider this test?
Individuals with symptoms like ear abnormalities, digit fusion, or cleft palate, and those with a family history of the syndrome. It is also recommended for genetic counseling purposes.
What does the test cost in India?
The test costs INR 20,000 at DNA Labs India, which includes sample collection, analysis, and genetic counseling.
How is the test performed?
A blood sample is collected and analyzed using NGS technology to sequence the FLNA gene and identify pathogenic variants.
Is home sample collection available?
Yes, free home sample collection is available across many cities in India. You can book online for convenient service.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do positive results mean?
A positive result confirms the presence of a pathogenic FLNA mutation, confirming the diagnosis. This guides treatment and management plans.
Are there any risks associated with the test?
The test involves minimal risks, such as minor bruising from blood draw. Psychological impact is possible, so genetic counseling is recommended.
Does the test require fasting?
No, fasting is not required. You can eat and drink normally before the test.
Can this test be used for prenatal diagnosis?
This specific test is typically for postnatal diagnosis. For prenatal testing, consult a genetic specialist for appropriate options.
Is the test covered by insurance?
Coverage varies by insurance provider and plan. DNA Labs India can provide documentation for insurance claims, but direct coverage is not guaranteed.
What if the test shows a variant of uncertain significance?
A VUS requires careful interpretation by a genetic counselor. It may be re-evaluated over time as more data becomes available, and clinical correlation is essential.
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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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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