Short Description

NGS genetic DNA test detecets for variant and mutation detection in PEX5 gene for Rhizomelic chondrodysplasia punctata type 5

PreTest Information

Clinical History of Patient who is going for PEX5 Gene Rhizomelic chondrodysplasia punctata type 5 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PEX5 Gene Rhizomelic chondrodysplasia punctata type 5 NGS Genetic DNA Test gene PEX5

Detail Description

PEX5 Gene Rhizomelic chondrodysplasia punctata type 5 NGS Genetic DNA Test

Rhizomelic chondrodysplasia punctata (RCDP) is a rare genetic disorder that affects bone development, causing short stature, joint pain, and other symptoms. There are several types of RCDP, and type 5 is caused by mutations in the PEX5 gene. A genetic test can determine if a person has this mutation.

Symptoms of RCDP Type 5

The symptoms of RCDP type 5 usually become apparent in infancy or early childhood. The main symptoms are:

• Short stature
• Joint pain and stiffness
• Facial abnormalities, including a small head and a flat midface
• Intellectual disability
• Seizures
• Vision and hearing problems

Diagnosis of RCDP Type 5

RCDP type 5 is diagnosed through genetic testing, which can detect mutations in the PEX5 gene. This test is usually performed on a blood or saliva sample. If a person has a family history of RCDP type 5 or if they are showing symptoms of the condition, genetic testing may be recommended.

NGS Genetic DNA Test Cost

The cost of NGS Genetic DNA testing for RCDP type 5 at DNA Labs India is INR 20,000.

Conclusion

RCDP type 5 is a rare genetic disorder that can cause significant health problems. Early diagnosis through genetic testing can help manage the symptoms and improve the quality of life for those affected. If you or a loved one is experiencing symptoms of RCDP type 5 or if there is a family history of the condition, speak to a healthcare provider about genetic testing.

At DNA Labs India, we provide NGS Genetic DNA testing for RCDP type 5 at an affordable cost. Contact us today to learn more about our testing services.