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Achondroplasia (FGFR3 Full Gene Sequence Analysis) Test

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Achondroplasia (FGFR3 Full Gene Sequence Analysis) Test

Also known as: FGFR3 Full Gene Sequence Analysis, Achondroplasia Genetic Test

Achondroplasia (FGFR3 Full Gene Sequence Analysis) Test test available at DNA Labs India for ₹30,000. Uses Sanger Sequencing on Peripheral blood, Amniotic Fluid, Chorionic villi, Cord blood samples. Results in 2-3 weeks. Free home collection in 300+ cities across India.

Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To confirm a diagnosis of achondroplasia, identify carriers of FGFR3 mutations, and support prenatal testing and genetic counseling.

Test Code
2942
Price
₹30,000
Sample Type
Peripheral blood, Amniotic Fluid, Chorionic villi, Cord blood
Result Time
2-3 weeks
Fasting Required
No
Method
Sanger Sequencing
Step 1

Sample Collection

Achondroplasia (FGFR3 full gene sequence analysis) can be done with a Doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planning to travel abroad.

Step 2

Laboratory Analysis

Your sample is analyzed using Sanger Sequencing in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 2-3 weeks

Patient Instructions

1
Before the Test:Achondroplasia (FGFR3 full gene sequence analysis) can be done with a Doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planning to travel abroad.

About This Test

Who Should Get This Test

To confirm a diagnosis of achondroplasia, identify carriers of FGFR3 mutations, and support prenatal testing and genetic counseling.

How to Prepare

  • Use sterile containers or EDTA vacutainers as specified
  • Maintain sample at cool temperature with cool packs during transport
  • Ensure proper labeling and documentation

Doctor's Notes

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

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypePeripheral blood, Amniotic Fluid, Chorionic villi, Cord blood
ContainerSterile container, Sterile Normal Saline Container, EDTA Vacutainer (2ml)

Understanding Your Results

⚠️ When to Consult a Doctor:

If you suspect that you or your child may have achondroplasia, speak to your doctor about genetic testing options. Early diagnosis and management can help improve quality of life and prevent complications.

Frequently Asked Questions

What is achondroplasia?
Achondroplasia is a genetic disorder that affects bone growth, leading to short stature and disproportionate limb shortening, caused by mutations in the FGFR3 gene.
What causes achondroplasia?
Achondroplasia is caused by a mutation in the FGFR3 gene, which regulates bone growth. Most cases result from a de novo mutation, but it can be inherited in an autosomal dominant pattern.
What are the symptoms of achondroplasia?
Symptoms include short stature, bowed legs, limited elbow range of motion, lumbar lordosis, prominent forehead, short fingers, and tightened joints.
How is achondroplasia diagnosed?
Diagnosis can be prenatal via chorionic villus sampling or amniocentesis, or postnatal through physical examination, X-rays, and genetic testing to confirm FGFR3 mutations.
What is FGFR3 full gene sequence analysis?
It is a genetic test that analyzes the entire FGFR3 gene to detect mutations responsible for achondroplasia, used for diagnosis confirmation and carrier identification.
Why is this test important?
This test confirms achondroplasia diagnosis, identifies carriers for genetic counseling, and supports prenatal decision-making, aiding in early management and family planning.
What is the cost of the test in India?
The cost of FGFR3 full gene sequence analysis in India is approximately INR 30,000, with free home sample collection available across many cities.
How is the test performed?
The test involves collecting a DNA sample from peripheral blood, amniotic fluid, chorionic villi, or cord blood, followed by Sanger sequencing to analyze the FGFR3 gene.
What samples are required for the test?
Samples can include peripheral blood, amniotic fluid, chorionic villi, or cord blood, collected in sterile containers or EDTA vacutainers.
How long does it take to get results?
Results are typically available within 2-3 weeks after sample collection, delivered via online portal, email, or WhatsApp.
Is home collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across numerous cities in India.
Who should consider this test?
Individuals with suspected achondroplasia symptoms, family history of the disorder, or those requiring prenatal testing or carrier status confirmation should consider this test.
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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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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