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FLNA Gene Frontometaphyseal dysplasia NGS Genetic Test

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FLNA Gene Frontometaphyseal dysplasia NGS Genetic Test

Short Name: FLNA Gene FMD NGS Test

Also known as: Frontometaphyseal Dysplasia, FMD, FLNA Mutation Test

FLNA Gene Frontometaphyseal dysplasia NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, 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 Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To identify pathogenic mutations in the FLNA gene for definitive diagnosis of Frontometaphyseal Dysplasia, enabling appropriate clinical management, genetic counseling, and family planning.

Test Code
1624
Price
₹20,000
Sample Type
Blood, 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 Frontometaphyseal Dysplasia.

Method: Venipuncture for blood or spot collection for FTA card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop blood on FTA card.

Step 3

Report Delivery

Sample sent to lab for NGS analysis; results available in 3 to 4 weeks.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical evaluation recommended to assess symptoms and family history.
2
During the Test:Blood sample collection or DNA extraction; samples processed in accredited lab using NGS technology.
3
After the Test:Wait for 3 to 4 weeks for results; discuss findings with genetic counselor or healthcare provider.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the FLNA gene for definitive diagnosis of Frontometaphyseal Dysplasia, enabling appropriate clinical management, genetic counseling, and family planning.

How to Prepare

  • Provide clinical history and family pedigree
  • Blood sample in EDTA tube or FTA card
  • No fasting required
  • Ambient room temperature for sample storage

Doctor's Notes

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

"Genetic testing with NGS is essential for confirming Frontometaphyseal Dysplasia, identifying specific FLNA mutations, and guiding personalized management and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card
Sample VolumeAs per standard protocol
ContainerEDTA tube for blood or FTA card
Collection MethodVenipuncture for blood or spot collection for FTA card

Sample Stability

Blood samples stable at room temperature for 24 hours
FTA cards stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or insufficient sample volume
  • Incorrect sample type or container
  • Missing patient information

Understanding Your Results

Results indicate the presence or absence of mutations in the FLNA gene. Positive results confirm Frontometaphyseal Dysplasia, while negative results may require further testing.
Pathogenic mutation detected: Confirms diagnosis
Variant of uncertain significance: May need additional studies
No mutation detected: Consider other genetic or non-genetic causes
⚠️ When to Consult a Doctor:

If symptoms of Frontometaphyseal Dysplasia are present, such as skeletal abnormalities, skin changes, or developmental delays, or if there is a family history of the condition.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Results require interpretation by a genetic specialist
  • ⚠Does not replace clinical evaluation

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●No significant risks from genetic testing itself

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample storage

Compare With Similar Tests

TestFLNA Gene Frontometaphyseal dysplasia NGS Genetic TestSkeletal Dysplasia PanelWhole Exome SequencingFLNA Single Gene Test
ComparisonFLNA Gene Frontometaphyseal dysplasia NGS Genetic Test

Frequently Asked Questions

What is Frontometaphyseal Dysplasia?
Frontometaphyseal Dysplasia (FMD) is a rare genetic condition that affects bone and skin development, caused by mutations in the FLNA gene.
What causes FMD?
FMD is caused by mutations in the FLNA gene, which encodes the filamin A protein important for cell structure.
What are the symptoms of FMD?
Symptoms include skeletal abnormalities like bowed legs, skin thickening on palms and soles, facial changes, and sometimes intellectual disability.
How is FMD diagnosed?
Diagnosis is based on clinical symptoms, family history, and confirmed with genetic testing such as the FLNA Gene NGS test.
What is the FLNA Gene NGS Genetic Test?
It is a Next-Generation Sequencing test that analyzes the FLNA gene to identify mutations causing Frontometaphyseal Dysplasia.
What does the test involve?
The test requires a blood sample or DNA extraction, analyzed using NGS technology to detect FLNA gene mutations.
How much does the test cost?
The cost of the FLNA Gene Frontometaphyseal Dysplasia NGS Genetic Test at DNA Labs India is INR 20,000.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is genetic counseling recommended?
Yes, genetic counseling is recommended before and after testing to understand results and implications.
Can the test be done for prenatal diagnosis?
This test is primarily for diagnostic purposes; prenatal testing may require separate consultation and methods.
What if the test result is positive?
A positive result confirms FLNA mutation and FMD diagnosis; consult a healthcare provider for management and genetic counseling.
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 Data Privacy

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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