Short Description

NGS genetic DNA test detecets for variant and mutation detection in ACVR1 gene for Fibrodysplasia ossificans progressiva

PreTest Information

Clinical History of Patient who is going for ACVR1 Gene Fibrodysplasia ossificans progressiva NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ACVR1 Gene Fibrodysplasia ossificans progressiva NGS Genetic DNA Test gene ACVR1

Detail Description

ACVR1 Gene Fibrodysplasia Ossificans Progressiva NGS Genetic DNA Test Cost INR 20,000: Symptoms and Diagnosis

Fibrodysplasia Ossificans Progressiva (FOP) is a rare genetic disorder that causes progressive heterotopic ossification (HO) of soft tissues such as muscles, tendons, and ligaments. It is caused by a mutation in the ACVR1 gene, which encodes a protein called Activin A receptor type I.

NGS Genetic DNA Test can be used to diagnose FOP by analyzing the ACVR1 gene. The cost of this test in India is approximately INR 20,000.

Symptoms of FOP

The symptoms of FOP usually appear in childhood, and the condition worsens over time. Some of the common symptoms of FOP include:

• Abnormal bone growth in soft tissues such as muscles, tendons, and ligaments
• Stiffness and limited mobility of joints
• Pain and swelling in affected areas
• Difficulty breathing and swallowing due to HO in the chest and neck area

Diagnosis of FOP

FOP can be diagnosed through a combination of clinical evaluation, radiographic imaging, and genetic testing. Genetic testing is the most reliable method of diagnosing FOP, and NGS Genetic DNA Test can be used to analyze the ACVR1 gene.

The test involves taking a blood or tissue sample from the patient and analyzing it for mutations in the ACVR1 gene. The results of the test can confirm the diagnosis of FOP and provide information about the specific mutation causing the condition.

Conclusion

FOP is a rare genetic disorder that causes abnormal bone growth in soft tissues. It is caused by a mutation in the ACVR1 gene, which can be analyzed using NGS Genetic DNA Test. The cost of this test in India is approximately INR 20,000. Early diagnosis of FOP can help in managing the symptoms and improving the quality of life of the affected individuals.

If you suspect that you or someone you know may have FOP, it is important to consult a healthcare professional for proper diagnosis and treatment.

For more information about NGS Genetic DNA Test for FOP, contact DNA Labs India.