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

COL2A1 Gene Achondrogenesis type 2 NGS Genetic DNA Test

COL2A1 gene is responsible for producing collagen type 2 protein, which is essential for the development of bones and cartilage. Achondrogenesis type 2 is a rare genetic disorder caused by mutations in the COL2A1 gene, which affects the growth of bones and cartilage. This disorder is inherited in an autosomal dominant pattern, which means that an affected individual has a 50% chance of passing the mutation to their offspring.

Symptoms of Achondrogenesis type 2

Achondrogenesis type 2 is characterized by severe skeletal abnormalities, which can be detected during pregnancy via ultrasound. Some of the common symptoms include:

• Shortened limbs and torso
• Abnormal curvature of the spine
• Small chest and lungs
• Underdeveloped facial features
• Low birth weight
• Stillbirth or neonatal death

Diagnosis of Achondrogenesis type 2

Achondrogenesis type 2 can be diagnosed during pregnancy via ultrasound, which can detect the skeletal abnormalities. However, a definitive diagnosis can only be made through genetic testing, which involves analyzing the COL2A1 gene for mutations. Next-generation sequencing (NGS) is a powerful tool that can analyze multiple genes simultaneously, making it an efficient and cost-effective method for genetic testing.

NGS Genetic DNA Test cost

The cost of the NGS Genetic DNA Test for Achondrogenesis type 2 at DNA Labs India is INR 20,000. This includes the cost of sample collection, DNA extraction, sequencing, and analysis. The test can be performed on a blood or saliva sample, and the results are usually available within 2-3 weeks.

Conclusion

Achondrogenesis type 2 is a rare genetic disorder that can cause severe skeletal abnormalities. Early diagnosis through genetic testing can help parents make informed decisions about their pregnancy and plan for appropriate medical care. The NGS Genetic DNA Test for Achondrogenesis type 2 offered by DNA Labs India is an efficient and cost-effective method for genetic testing.

If you have any concerns about Achondrogenesis type 2 or would like to schedule a genetic test, please contact DNA Labs India today.