Short Description

NGS genetic DNA test detecets for variant and mutation detection in COL2A1 gene for Achondrogenesis type 2

PreTest Information

Clinical History of Patient who is going for COL2A1 Gene Achondrogenesis type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL2A1 Gene Achondrogenesis type 2 NGS Genetic DNA Test gene COL2A1

Detail Description

Understanding COL2A1 Gene Achondrogenesis Type 2: NGS Genetic DNA Test Cost INR 20,000, Symptoms, and Diagnosis

Achondrogenesis is a rare genetic disorder that affects bone development, leading to short limbs, a small chest, and a soft skull. There are two types of achondrogenesis, and type 2 is caused by mutations in the COL2A1 gene. This gene provides instructions for making type II collagen, which is a protein found in cartilage and other tissues. When the COL2A1 gene is mutated, it affects the production of type II collagen, which impairs bone development and leads to achondrogenesis type 2.

Symptoms of Achondrogenesis Type 2

The symptoms of achondrogenesis type 2 are usually evident at birth or shortly after. They include:

• Short limbs
• A small chest
• A soft skull
• Underdeveloped lungs
• Abnormal curvature of the spine
• Joints that are fixed in place or have limited movement
• Distinct facial features, such as a small jaw and a flat nasal bridge

Diagnosis of Achondrogenesis Type 2

Achondrogenesis type 2 can be diagnosed during pregnancy through ultrasound or genetic testing. After birth, a physical exam and X-rays can confirm the diagnosis. Genetic testing can also be done after birth to confirm the mutation in the COL2A1 gene.

NGS Genetic DNA Test for COL2A1 Gene Achondrogenesis Type 2

Next-generation sequencing (NGS) genetic DNA testing is a powerful tool used to identify genetic mutations that cause diseases like achondrogenesis type 2. This test analyzes the entire COL2A1 gene to identify any mutations that may be present. The test is non-invasive and requires only a blood sample or saliva sample. The cost of the NGS genetic DNA test for COL2A1 gene achondrogenesis type 2 is INR 20,000.

Conclusion

Achondrogenesis type 2 is a rare genetic disorder that affects bone development, leading to short limbs, a small chest, and a soft skull. It is caused by mutations in the COL2A1 gene, which produces type II collagen. NGS genetic DNA testing is a powerful tool used to identify genetic mutations that cause diseases like achondrogenesis type 2. The cost of the NGS genetic DNA test for COL2A1 gene achondrogenesis type 2 is INR 20,000. If you suspect that you or your child may have achondrogenesis type 2, it is important to consult with a genetic counselor or healthcare provider for diagnosis and treatment options.