Short Description

NGS genetic DNA test detecets for variant and mutation detection in GNPAT gene for Rhizomelic chondrodysplasia punctata type 2

PreTest Information

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

Detail Description

GNPAT Gene Rhizomelic chondrodysplasia punctata type 2 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Rhizomelic chondrodysplasia punctata type 2 (RCDP2) is a rare genetic disorder that affects skeletal development and causes intellectual disability. This disorder is caused by mutations in the GNPAT gene. DNA Labs India offers NGS Genetic DNA Test for GNPAT Gene Rhizomelic chondrodysplasia punctata type 2 at a cost of INR 20000. In this blog, we will discuss the symptoms and diagnosis of this disorder.

Symptoms of Rhizomelic Chondrodysplasia Punctata Type 2

The symptoms of RCDP2 can vary widely, but usually appear within the first year of life. Some common symptoms include:

• Abnormal facial features, such as a small head, widely spaced eyes, and a flat nasal bridge
• Delayed growth and development, including delayed motor skills and intellectual disability
• Skeletal abnormalities, such as shortening of the long bones in the arms and legs, and abnormal curvature of the spine
• Epilepsy
• Vision problems, including cataracts and clouding of the cornea
• Poor muscle tone

Diagnosis of Rhizomelic Chondrodysplasia Punctata Type 2

Diagnosis of RCDP2 is usually made through genetic testing. DNA Labs India offers NGS Genetic DNA Test for GNPAT Gene Rhizomelic chondrodysplasia punctata type 2 at a cost of INR 20000. This test uses next-generation sequencing to identify mutations in the GNPAT gene that are associated with RCDP2.

In addition to genetic testing, doctors may perform a physical exam to look for characteristic signs of RCDP2, such as abnormal facial features and skeletal abnormalities. Imaging tests, such as X-rays and MRI scans, may also be used to look for skeletal abnormalities.

Conclusion

Rhizomelic chondrodysplasia punctata type 2 is a rare genetic disorder that can cause a wide range of symptoms, including delayed growth and development, skeletal abnormalities, and intellectual disability. DNA Labs India offers NGS Genetic DNA Test for GNPAT Gene Rhizomelic chondrodysplasia punctata type 2 at a cost of INR 20000, which can help diagnose this disorder. If you suspect that you or a loved one may have RCDP2, it is important to talk to a doctor and consider genetic testing.

At DNA Labs India, we are committed to providing accurate and affordable genetic testing services. If you have any questions about our NGS Genetic DNA Test for GNPAT Gene Rhizomelic chondrodysplasia punctata type 2, or any of our other genetic testing services, please don't hesitate to contact us.