Short Description

NGS genetic DNA test detecets for variant and mutation detection in IMPAD1 gene for Chondrodysplasia with joint dislocations, GPAPP type

PreTest Information

Clinical History of Patient who is going for IMPAD1 Gene Chondrodysplasia with joint dislocations, GPAPP type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with IMPAD1 Gene Chondrodysplasia with joint dislocations, GPAPP type NGS Genetic DNA Test gene IMPAD1

Detail Description

Understanding the IMPAD1 Gene and Chondrodysplasia with Joint Dislocations, GPAPP Type

Chondrodysplasia with joint dislocations, GPAPP type is a rare genetic disorder that affects bone and joint development. It is caused by mutations in the IMPAD1 gene, which provides instructions for making an enzyme that is involved in the production of a molecule called glycosaminoglycan.

Glycosaminoglycan is a key component of cartilage, which is the tissue that cushions joints and allows them to move smoothly. In people with chondrodysplasia with joint dislocations, GPAPP type, mutations in the IMPAD1 gene lead to a shortage of glycosaminoglycan, which can cause abnormal bone growth and joint instability.

Symptoms of Chondrodysplasia with Joint Dislocations, GPAPP Type

The symptoms of chondrodysplasia with joint dislocations, GPAPP type can vary widely between individuals. Some of the most common symptoms include:

• Short stature
• Joint dislocations
• Abnormal bone growth
• Abnormal curvature of the spine (scoliosis)
• Difficulty breathing due to abnormal chest shape
• Eye abnormalities

These symptoms can range from mild to severe, and may be present at birth or develop later in life.

Diagnosis of Chondrodysplasia with Joint Dislocations, GPAPP Type

Chondrodysplasia with joint dislocations, GPAPP type is diagnosed through a combination of clinical evaluation and genetic testing. A doctor will typically perform a physical exam and take a detailed medical history to assess symptoms and look for signs of the disorder.

Genetic testing can confirm a diagnosis of chondrodysplasia with joint dislocations, GPAPP type by identifying mutations in the IMPAD1 gene. Next-generation sequencing (NGS) genetic DNA testing is a highly accurate and efficient method of genetic testing that can detect mutations in multiple genes simultaneously.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for chondrodysplasia with joint dislocations, GPAPP type typically ranges from INR 20,000 to INR 30,000. The exact cost may vary depending on the specific testing provider and the extent of the genetic analysis that is performed.

Conclusion

Chondrodysplasia with joint dislocations, GPAPP type is a rare genetic disorder that can cause a range of symptoms related to bone and joint development. Genetic testing, including NGS genetic DNA testing, can help to confirm a diagnosis and guide treatment decisions. If you or a loved one are experiencing symptoms of chondrodysplasia with joint dislocations, GPAPP type, it is important to speak with a healthcare provider about appropriate testing and treatment options.

At DNA Labs India, we offer NGS genetic DNA testing for a variety of genetic disorders, including chondrodysplasia with joint dislocations, GPAPP type. Our testing services are highly accurate and confidential, and we work with healthcare providers and patients to ensure that testing is accessible and affordable. Contact us today to learn more about our genetic testing services.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for IMPAD1 Gene Chondrodysplasia with joint dislocations, GPAPP type NGS Genetic DNA Test