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FGFR3 Gene Achondroplasia NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

FGFR3 Gene Achondroplasia NGS Genetic Test

Short Name: FGFR3 Achondroplasia NGS Test

Also known as: Achondroplasia Genetic Test, FGFR3 Mutation Test, Dwarfism Genetic Test

FGFR3 Gene Achondroplasia NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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 Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To detect mutations in the FGFR3 gene for diagnosis of Achondroplasia and carrier screening.

Test Code
4806
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
NGS Technology
Step 1

Sample Collection

No special preparation required. Provide clinical history and family pedigree.

Method: Venipuncture or blood drop

Step 2

Laboratory Analysis

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

Step 3

Report Delivery

Apply pressure to the puncture site. Sample will be sent to the lab for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to understand the test and implications.
2
During the Test:The test involves DNA extraction and sequencing of the FGFR3 gene.
3
After the Test:Results will be available in 3-4 weeks. Genetic counseling recommended for interpretation.

About This Test

Who Should Get This Test

To detect mutations in the FGFR3 gene for diagnosis of Achondroplasia and carrier screening.

How to Prepare

  • Bring referral form and ID
  • Inform about any medications
  • No fasting required unless specified

Doctor's Notes

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

"Genetic testing for Achondroplasia is crucial for early intervention and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or blood drop

Sample Stability

Blood sample stable at room temperature for 48 hours
FTA card stable for longer periods
Sample Rejection Criteria:
  • Hemolyzed or lipemic sample
  • Insufficient sample volume
  • Incorrect sample type

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the FGFR3 gene.
Positive result: Mutation detected, consistent with Achondroplasia
Negative result: No mutation detected, but clinical correlation needed
Variant of uncertain significance: Further testing may be required
⚠️ When to Consult a Doctor:

If symptoms of Achondroplasia are present, or if there is a family history of the condition.

Limitations

  • May not detect all rare variants
  • Requires genetic counseling for interpretation
  • Not a prenatal diagnostic test

Risks & Considerations

  • Minimal risk from blood draw: bruising, infection
  • Psychological impact of results

Interfering Factors

  • Sample contamination
  • DNA degradation
  • Technical errors in sequencing

Compare With Similar Tests

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ComparisonFGFR3 Gene Achondroplasia NGS Genetic Test

Frequently Asked Questions

What is Achondroplasia?
Achondroplasia is a genetic disorder that affects bone growth, leading to short stature and other health issues. It is the most common form of dwarfism.
What causes Achondroplasia?
Achondroplasia is caused by a mutation in the FGFR3 gene, which is essential for bone growth and development.
What are the symptoms of Achondroplasia?
Symptoms include short stature, larger head size, short limbs, lordosis, delayed motor development, sleep apnea, and recurrent ear infections.
How is Achondroplasia diagnosed?
Diagnosis is typically through physical examination and medical history, confirmed by genetic testing such as the FGFR3 Gene NGS Test.
What is the FGFR3 Gene Achondroplasia NGS Genetic Test?
It is a Next-Generation Sequencing test that analyzes the entire FGFR3 gene to detect mutations associated with Achondroplasia.
How much does the test cost?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across India.
What sample is required for the test?
The test requires blood, extracted DNA, or one drop of blood on an FTA card.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India.
What does a positive result mean?
A positive result indicates the presence of a pathogenic mutation in the FGFR3 gene, confirming a diagnosis of Achondroplasia.
Can the test be used for carrier screening?
Yes, the test can identify carriers in families with a history of Achondroplasia.
Who should consider this test?
Individuals with symptoms of Achondroplasia or a family history of the condition should consider this test for diagnosis and family planning.
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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