Short Description

NGS genetic DNA test detecets for variant and mutation detection in FGFR3 gene for Achondroplasia

PreTest Information

Clinical History of Patient who is going for FGFR3 Gene Achondroplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with FGFR3 Gene Achondroplasia NGS Genetic DNA Test gene FGFR3

Detail Description

FGFR3 Gene Achondroplasia NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Are you or someone you know experiencing symptoms of Achondroplasia? It may be time to consider getting an NGS Genetic DNA test for the FGFR3 gene. DNA Labs India offers this test for INR 20000. Let's dive into the details of Achondroplasia, its symptoms, and how this test can help with diagnosis.

What is Achondroplasia?

Achondroplasia is a genetic disorder that affects bone growth, leading to short stature and other related health issues. It is the most common form of dwarfism, affecting around 1 in every 25,000 people worldwide. The condition is caused by a mutation in the FGFR3 gene, which provides instructions for making a protein that is essential for bone growth and development.

Symptoms of Achondroplasia

The most noticeable symptom of Achondroplasia is short stature. However, there are other symptoms associated with the condition, including:

• Larger head size compared to body size
• Short limbs and fingers
• Pronounced curvature of the lower spine (lordosis)
• Enlarged space between the forehead and the bridge of the nose
• Delayed motor development
• Difficulty breathing and sleep apnea
• Recurrent ear infections

Diagnosis of Achondroplasia

The diagnosis of Achondroplasia is typically made through physical examination and medical history. However, genetic testing can confirm the diagnosis and identify the specific mutation in the FGFR3 gene. This can be done through an NGS Genetic DNA test, which analyzes the entire gene and detects any mutations or variations that may be present. The test can also be used for carrier screening in families with a history of Achondroplasia.

NGS Genetic DNA Test for the FGFR3 Gene

DNA Labs India offers an NGS Genetic DNA test for the FGFR3 gene, which can help with the diagnosis of Achondroplasia. The test costs INR 20000 and provides comprehensive analysis of the entire gene, identifying any mutations or variations that may be present. This test is highly accurate and can provide a definitive diagnosis, helping patients and families to understand the condition and plan for appropriate treatment and management.

Conclusion

Achondroplasia can have a significant impact on a person's health and wellbeing, but early diagnosis and treatment can help to manage the condition effectively. If you or someone you know is experiencing symptoms of Achondroplasia, consider getting an NGS Genetic DNA test for the FGFR3 gene from DNA Labs India. With accurate diagnosis, you can take steps to manage the condition and improve your quality of life.