Skip to main content
DNA Labs India

FGFR3 Gene Hypochondroplasia NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

FGFR3 Gene Hypochondroplasia NGS Genetic Test

Short Name: FGFR3 Hypochondroplasia Test

Also known as: FGFR3-related hypochondroplasia, Hypochondroplasia due to FGFR3 mutation

FGFR3 Gene Hypochondroplasia 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.

Next-Generation Sequencing 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

To identify pathogenic mutations in the FGFR3 gene causing hypochondroplasia for accurate diagnosis, management, and genetic counseling.

Test Code
4971
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

Provide detailed clinical history and family pedigree during genetic counseling session.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

Blood sample collected by trained phlebotomist using sterile technique.

Step 3

Report Delivery

Sample labeled and transported to laboratory under controlled conditions for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended prior to testing.
2
During the Test:Blood sample collection followed by DNA extraction and NGS analysis in the laboratory.
3
After the Test:Results interpreted by geneticists and delivered with counseling support.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the FGFR3 gene causing hypochondroplasia for accurate diagnosis, management, and genetic counseling.

How to Prepare

  • Ensure proper patient identification
  • Avoid hemolysis during blood draw
  • Use appropriate collection tubes

Doctor's Notes

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

"Early genetic testing for FGFR3 mutations can guide management, family planning, and intervention for skeletal disorders."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per requirement
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood: 2-8°C for up to 48 hours
Extracted DNA: Stable at room temperature for extended periods
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or hemolyzed sample
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of FGFR3 gene mutations associated with hypochondroplasia.
Positive: Pathogenic mutation detected, consistent with hypochondroplasia diagnosis
Negative: No pathogenic variant found, but clinical correlation is advised
Variant of uncertain significance: Further testing or family studies may be recommended
⚠️ When to Consult a Doctor:

Consult a geneticist or specialist if symptoms persist, for family planning, or to discuss management options based on test results.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare risk of infection
  • ●Emotional impact of results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Improper sample handling

Compare With Similar Tests

TestFGFR3 Gene Hypochondroplasia NGS Genetic TestAchondroplasia Genetic TestSkeletal Dysplasia PanelGrowth Hormone Test
ComparisonFGFR3 Gene Hypochondroplasia NGS Genetic Test

Frequently Asked Questions

What is FGFR3 Gene Hypochondroplasia?
It is a rare genetic disorder caused by mutations in the FGFR3 gene, leading to impaired bone growth and skeletal abnormalities.
What are the common symptoms of hypochondroplasia?
Symptoms include short stature, short limbs, large head with prominent forehead, broad nose, small jaw, and curved spine.
How is the FGFR3 Gene Hypochondroplasia NGS Genetic Test performed?
The test uses Next-Generation Sequencing to analyze the FGFR3 gene from a blood or DNA sample.
What is the cost of this genetic test?
The test costs INR 20000 at DNA Labs India, with free home sample collection available.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across India for online bookings.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result indicates a pathogenic mutation in the FGFR3 gene, confirming hypochondroplasia diagnosis.
Can this test detect all mutations causing hypochondroplasia?
While NGS is comprehensive, it may not detect all rare variants; genetic counseling is advised for interpretation.
Is genetic counseling provided with the test?
Yes, a genetic counseling session is included to discuss results, implications, and family planning.
Who should consider taking this genetic test?
Individuals with symptoms of hypochondroplasia, family history of skeletal disorders, or those seeking diagnostic confirmation.
Is the test covered by insurance schemes like PMJAY or CGHS?
Coverage varies; it is recommended to check with your insurance provider or scheme administrator.
How accurate is the NGS technology used in this test?
NGS technology is highly accurate for detecting genetic mutations, but results should be correlated with clinical evaluation.
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.

Related Tests

WISP3 Gene Arthropathy, progressive pseudorheumatoid, of childhood NGS Genetic Test

₹20,000

FLNB Gene Atelosteogenesis type 3 NGS Genetic Test

₹20,000

FLNB Gene Atelosteogenesis type 1 NGS Genetic Test

₹20,000

EBP Gene Chondrodysplasia punctata, X-linked dominant NGS Genetic Test

₹20,000

COL11A1 Gene Marshall syndrome NGS Genetic Test

₹20,000

ACTN3 (Sports Gene) Genotyping Test

₹7,000
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.

LIMS Integration

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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.