Achondroplasia (FGFR3 Full Gene Sequence Analysis) Test: Booking, Price, and Results
About Achondroplasia (FGFR3 Full Gene Sequence Analysis) Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | FGFR3 Gene Sequencing, Achondroplasia Gene Test, FGFR3 Mutation Analysis, Dwarfism Genetic Test |
| Sample Type | Chorionic Villus (CVS), Amniotic Fluid, Peripheral Blood (EDTA), or Cord Blood (EDTA) |
| Fasting Required | No |
| Report Time | 20 days |
| Recommended For | All genders and ages; newborns, children, adults with clinical features of achondroplasia, or at-risk pregnancies |
| Price | Starting at ₹24,000 |
What is an Achondroplasia (FGFR3 Full Gene Sequence Analysis) Test?
The Achondroplasia (FGFR3 full gene sequence analysis) test examines the entire coding region of the FGFR3 gene to detect mutations that cause achondroplasia, the most common form of short-limbed dwarfism. It is prescribed for individuals with physical features suggesting achondroplasia, or for prenatal diagnosis when one or both parents are affected. The test uses Sanger Sequencing to analyse DNA extracted from a tissue or blood sample. It is also known as the FGFR3 Gene Sequencing or the Achondroplasia Gene Test.
What Does an Achondroplasia (FGFR3 Full Gene Sequence Analysis) Test Measure?
This test analyses the FGFR3 gene, which carries instructions for a protein involved in bone and brain tissue development. Mutations in this gene cause the protein to become overactive, disrupting normal bone growth.
The following mutations are examined as part of the FGFR3 full gene sequence analysis:
| Mutation | Significance |
|---|---|
| c.1138G>A (p.Gly380Arg) | Found in approximately 98% of achondroplasia cases |
| c.1138G>C (p.Gly380Arg) | Found in approximately 1% of achondroplasia cases |
| Rare FGFR3 mutations | Other uncommon variants associated with atypical presentations |
Why is an Achondroplasia (FGFR3 Full Gene Sequence Analysis) Test Done?
This test is ordered when a doctor suspects achondroplasia based on physical features, imaging findings, or family history. It is also used for prenatal diagnosis in at-risk pregnancies.
Common Symptoms That May Require This Test
The following physical features may prompt a doctor to request this test:
- Noticeably shorter upper arms and thighs compared to forearms and lower legs
- Enlarged head with a prominent forehead
- Flattened mid-face structure
- Limited movement at the elbows
- Short, broad fingers
- Short stature identified at birth or during early childhood
Conditions This Test Can Help Detect
This test helps identify a range of FGFR3-related skeletal conditions:
- Achondroplasia, the most common form of short-limbed dwarfism
- Hypochondroplasia, a milder skeletal dysplasia with physical overlap with achondroplasia
- Thanatophoric dysplasia, a severe skeletal condition
- Crouzon syndrome with acanthosis nigricans (a condition involving dark, thickened skin patches)
Achondroplasia (FGFR3 Full Gene Sequence Analysis) Test During Pregnancy
Prenatal diagnosis of achondroplasia is possible when ultrasound findings suggest the condition, such as shortened femur bones or an enlarged head. Molecular genetic testing using CVS or amniocentesis can confirm the diagnosis during pregnancy. This is particularly important when one or both parents have achondroplasia, as it informs prenatal care and planning.
How to Prepare and What to Expect
No special preparation is needed for most sample types. However, there are a few practical points to keep in mind before your appointment.
Do You Need to Fast?
No, fasting is not required before this test. You may eat and drink normally on the day of sample collection.
Practical Tips Before Your Test
Here are some simple steps to help your appointment go smoothly:
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
- Carry any relevant imaging reports or previous genetic test results
- Inform your doctor about any medications or health conditions
- Pre-test genetic counselling is recommended to understand the implications of possible results
- Ensure informed consent is obtained before the procedure, as required for genetic testing
Step-by-Step Procedure
This test accepts four sample types. The collection process differs depending on which sample is taken.
Peripheral Blood or Cord Blood (EDTA Tube):
- A healthcare professional confirms your identity and obtains your consent.
- A 3 ml blood sample is drawn from a vein in your arm using an EDTA (lavender-top) tube.
- The site is cleaned, the needle is inserted briefly, and the sample is collected.
- The sample is labelled and stored at 2 to 8 degrees Celsius for transport to the laboratory.
- DNA is extracted at the lab and analysed using Sanger Sequencing.
- Results are dispatched within 20 days of receipt by the laboratory.
Chorionic Villus (CVS) Sample:
- The procedure is performed by a specialist at a clinical centre under ultrasound guidance.
- A small sample of placental tissue (approximately 30 mg) is collected in a sterile container.
- The sample is stored at 2 to 8 degrees Celsius and transported to the laboratory promptly.
- DNA is extracted, and the FGFR3 gene is analysed using Sanger Sequencing.
- Results are available within 20 days.
Amniotic Fluid Sample:
- A specialist performs amniocentesis under ultrasound guidance at a clinical centre.
- Approximately 20 ml of amniotic fluid is collected in a Falcon tube.
- The sample is stored and transported under refrigerated conditions (2 to 8 degrees Celsius).
- DNA analysis using Sanger Sequencing is carried out at the laboratory.
- Results are available within 20 days.
Factors That Can Affect Accuracy
The following factors may influence the quality or interpretation of results:
- Poor sample quality or insufficient sample volume
- Rare or novel FGFR3 mutations not covered by the sequencing panel
- Sample degradation due to improper storage or transport
- An incomplete clinical history was provided at the time of testing
Understanding Your Achondroplasia (FGFR3 Full Gene Sequence Analysis) Test Results
This is a qualitative test. Results are reported as either "pathogenic variant detected" or "no pathogenic variant detected." Your doctor or clinical geneticist will interpret the result alongside clinical features, imaging findings, and family history.
| Parameter | Normal Result | Positive Result |
|---|---|---|
| FGFR3 pathogenic variants | Not detected | Pathogenic variant detected |
A positive result may indicate achondroplasia or another FGFR3-related skeletal condition, depending on the specific mutation found. A negative result means no known disease-causing mutation was identified, though rare mutations not covered by this test cannot be fully excluded.
Disclaimer: These ranges are general guidelines. Your doctor will interpret your results based on your age, health history, and other factors. Always consult a qualified healthcare professional for personalised medical advice.
How to Maintain Healthy Levels
This test detects a genetic condition rather than a modifiable health marker. The following steps are relevant for affected individuals and their families:
- Seek genetic counselling to understand the implications of a positive result for family members
- Engage with a clinical geneticist or specialist team for guidance on management and care
- For families planning a pregnancy, discuss prenatal testing options with your doctor in advance
Lupin Diagnostics Achondroplasia (FGFR3 Full Gene Sequence Analysis) Test Price
The Achondroplasia test cost at Lupin Diagnostics starts at ₹24,000. This test requires a visit to a Lupin Diagnostics centre; home collection is not available due to the specialised nature of the sample types involved.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 24000 |
| CHENNAI | 24000 |
| HYDERABAD | 24000 |
| KOLKATA | 24000 |
| NAVI MUMBAI | 24000 |
| PUNE | 24000 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
Follow these steps to schedule your Achondroplasia test online booking through Lupin Diagnostics:
- Select the test on the Lupin Diagnostics website.
- Choose your city and preferred centre location.
- Visit the centre at your scheduled time for sample collection.
- Receive your report via email or WhatsApp within 20 days.
Frequently Asked Questions
The FGFR3 gene provides instructions for a protein involved in the development of bone and brain tissue. When this gene carries a mutation, the protein becomes overactive and disrupts normal bone growth. The FGFR3 full gene sequence analysis identifies whether such a mutation is present, confirming or ruling out achondroplasia.
Achondroplasia occurs in approximately 1 in 10,000 to 1 in 30,000 live births. It affects all ethnicities equally. Most cases occur in children born to parents who do not have the condition.
No. Around 80% of cases arise from a new (de novo) mutation in the FGFR3 gene, meaning neither parent carries the variant. A family history of achondroplasia is therefore not necessary for the condition to occur.
Yes. Prenatal diagnosis using the Achondroplasia test procedure is possible through CVS or amniocentesis. These procedures are typically recommended when ultrasound findings suggest achondroplasia or when one or both parents are affected.
Targeted mutation testing checks only for the two most common FGFR3 mutations. Full gene sequencing, as offered here, analyses all coding regions of the FGFR3 gene, allowing detection of rare or less common mutations that targeted testing would miss.
A positive result should be discussed with a clinical geneticist. They can explain the diagnosis, outline potential complications to monitor, and provide guidance on family planning. Genetic counselling is strongly advised for affected individuals and their families.
For peripheral or cord blood collection, risks are minimal. You may experience slight discomfort, bruising, or tenderness at the site of the needle. Prenatal sampling via CVS or amniocentesis carries a small procedural risk, which your specialist will explain before the procedure.
Achondroplasia (FGFR3 Full Gene Sequence Analysis) Test: Booking, Price, and Results
