Short Description

Achondroplasia Mutation Analysis (FGFR3 gene G1138A, G1138C) is performed using Sanger Sequencing methodology. Sample that have to be given is Peipheral blood in EDTA Vacutainer (2ml) for this test. You can expect results in 10-12 days

PreTest Information

Achondroplasia Mutation Analysis (FGFR3 gene G1138A, G1138C) can be done with a Doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad.

Detail Description

Achondroplasia Mutation Analysis (FGFR3 gene G1138A, G1138C) - Cost, Symptoms, and Diagnosis

Do you know someone who is shorter than the average height for their age group? They may be suffering from a genetic disorder called Achondroplasia. It is a type of dwarfism that affects the growth of bones in the arms, legs, and spine. Achondroplasia is caused by a mutation in the FGFR3 gene, which is responsible for regulating bone growth. The mutation can occur spontaneously or be inherited from a parent who carries the gene.

Diagnosing Achondroplasia can be challenging, as symptoms may not be apparent until later in childhood. Some common symptoms of Achondroplasia include:

• Short stature
• Disproportionately short arms and legs
• Large head with a prominent forehead
• Short fingers and toes
• Spinal stenosis (narrowing of the spinal canal)

If you suspect that you or your child may have Achondroplasia, it is important to get a proper diagnosis from a medical professional. One way to confirm the diagnosis is through genetic testing.

Achondroplasia Mutation Analysis

Achondroplasia Mutation Analysis is a genetic test that looks for mutations in the FGFR3 gene. Specifically, it tests for two common mutations: G1138A and G1138C. These mutations are responsible for about 98% of all cases of Achondroplasia. The test is performed using a blood sample or cheek swab and is typically very accurate.

Cost of Achondroplasia Mutation Analysis

The cost of Achondroplasia Mutation Analysis in India is approximately INR 9000. This includes the cost of the test itself, as well as any necessary consultations with a genetic counselor or other medical professional.

Why Get Tested?

Getting tested for Achondroplasia Mutation Analysis can provide valuable information about your or your child's health. If a mutation is found, it can confirm a diagnosis of Achondroplasia and help guide treatment decisions. It can also provide important information for family planning, as the mutation can be inherited from a parent. Additionally, knowing whether or not you or your child carries the mutation can help with early intervention and management of symptoms.

Conclusion

Achondroplasia is a genetic disorder that affects bone growth and can cause short stature and other skeletal abnormalities. If you suspect that you or your child may have Achondroplasia, it is important to seek a proper diagnosis from a medical professional. Achondroplasia Mutation Analysis is a genetic test that can confirm a diagnosis and provide important information for family planning and management of symptoms. The cost of the test in India is approximately INR 9000.

At DNA Labs India, we offer Achondroplasia Mutation Analysis and other genetic tests to help you better understand your health. Contact us today to learn more.