Short Description

NGS genetic DNA test detecets for variant and mutation detection in AGPS gene for Rhizomelic chondrodysplasia punctata type 3

PreTest Information

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

Detail Description

AGPS Gene Rhizomelic Chondrodysplasia Punctata Type 3 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Rhizomelic chondrodysplasia punctata type 3 (RCDP3) is a rare genetic disorder that affects bone growth and development. It is caused by mutations in the AGPS gene, which provides instructions for making an enzyme that is essential for the production of certain fats in the body. RCDP3 is characterized by short stature, skeletal abnormalities, intellectual disability, and vision and hearing problems.

Symptoms of RCDP3

The symptoms of RCDP3 are usually evident at birth or within the first few months of life. The most common symptoms include:

• Short stature
• Abnormal bone growth and development
• Intellectual disability
• Vision and hearing problems
• Seizures
• Respiratory problems

Diagnosis of RCDP3

RCDP3 is diagnosed through genetic testing, which can identify mutations in the AGPS gene. Other tests may be used to confirm the diagnosis and assess the severity of the condition, including X-rays and MRI scans to evaluate bone development, and hearing and vision tests to assess sensory function. A clinical evaluation may also be conducted to assess developmental milestones and other physical and cognitive characteristics.

AGPS Gene Rhizomelic Chondrodysplasia Punctata Type 3 NGS Genetic DNA Test Cost

The cost of AGPS gene rhizomelic chondrodysplasia punctata type 3 NGS genetic DNA testing in India is approximately INR 20,000. This cost may vary depending on the testing facility and any additional testing that may be required. It is important to consult with a genetic counselor or medical professional to determine the appropriate testing strategy and associated costs.

Conclusion

Rhizomelic chondrodysplasia punctata type 3 is a rare genetic disorder that can have significant physical and cognitive effects. Early diagnosis and intervention can help to manage symptoms and improve outcomes. Genetic testing can provide valuable information for families and healthcare providers, and should be considered for individuals with suspected RCDP3.

At DNA Labs India, we offer comprehensive genetic testing services, including AGPS gene rhizomelic chondrodysplasia punctata type 3 NGS genetic DNA testing, at an affordable cost. Our team of experienced professionals is dedicated to providing accurate and reliable testing results to help families and healthcare providers make informed decisions about diagnosis and treatment.

Contact us today to learn more about our genetic testing services and how we can help you.