Short Description

NGS genetic DNA test detecets for variant and mutation detection in FLNB gene for Atelosteogenesis type 3

PreTest Information

Clinical History of Patient who is going for FLNB Gene Atelosteogenesis type 3 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with FLNB Gene Atelosteogenesis type 3 NGS Genetic DNA Test gene FLNB

Detail Description

FLNB Gene Atelosteogenesis Type 3 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Atelosteogenesis type 3 (AO3) is a rare genetic disorder that affects bone development. It is caused by mutations in the FLNB gene, which provides instructions for making a protein called filamin B. This protein helps to shape and support the structure of bones.

Individuals with AO3 have short arms and legs, a small chest, and a curved spine. They may also have breathing difficulties and problems with joint mobility. AO3 is usually diagnosed at birth or shortly thereafter.

If you or someone you know is experiencing symptoms of AO3, it is important to seek medical attention right away. A genetic DNA test can confirm the diagnosis and help to determine the best course of treatment.

FLNB Gene Atelosteogenesis Type 3 NGS Genetic DNA Test

The FLNB Gene Atelosteogenesis Type 3 NGS Genetic DNA Test is a diagnostic test that looks for mutations in the FLNB gene. This test is performed using next-generation sequencing (NGS) technology, which allows for the rapid and accurate analysis of DNA sequences.

The cost of the FLNB Gene Atelosteogenesis Type 3 NGS Genetic DNA Test in India is INR 20,000.

Symptoms of Atelosteogenesis Type 3

Individuals with AO3 typically exhibit the following symptoms:

• Short arms and legs
• Small chest
• Curved spine
• Breathing difficulties
• Joint mobility problems

Other symptoms may include cleft palate, hearing loss, and heart defects.

Diagnosis of Atelosteogenesis Type 3

AO3 is usually diagnosed at birth or shortly thereafter. A physical examination can reveal the characteristic features of the disorder, such as short limbs and a curved spine. Imaging tests, such as X-rays and CT scans, can also be used to confirm the diagnosis.

A genetic DNA test, such as the FLNB Gene Atelosteogenesis Type 3 NGS Genetic DNA Test, can confirm the diagnosis and identify the specific mutation in the FLNB gene that is causing the disorder.

Conclusion

Atelosteogenesis type 3 is a rare genetic disorder that affects bone development. If you or someone you know is experiencing symptoms of AO3, it is important to seek medical attention right away. A genetic DNA test, such as the FLNB Gene Atelosteogenesis Type 3 NGS Genetic DNA Test, can confirm the diagnosis and help to determine the best course of treatment.

At DNA Labs India, we offer a wide range of genetic DNA tests to help diagnose and manage genetic disorders. Contact us today to learn more about our services.