Short Description

NGS genetic DNA test detecets for variant and mutation detection in AMER1 gene for Osteopathia striata with cranial sclerosis

PreTest Information

Clinical History of Patient who is going for AMER1 Gene Osteopathia striata with cranial sclerosis NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with AMER1 Gene Osteopathia striata with cranial sclerosis NGS Genetic DNA Test gene AMER1

Detail Description

AMER1 Gene Osteopathia Striata with Cranial Sclerosis NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Osteopathia striata with cranial sclerosis (OS-CS) is a rare genetic disorder that affects bone development. It is caused by mutations in the AMER1 gene and is inherited in an X-linked dominant pattern. This means that the condition is more common in females than males.

Symptoms of OS-CS

The symptoms of OS-CS can vary greatly from person to person, even among family members. Some people may have no symptoms, while others may have severe and disabling symptoms. The most common symptoms of OS-CS include:

• Abnormal bone growth and density
• Abnormalities in the skull and facial bones
• Abnormalities in the teeth
• Abnormalities in the limbs
• Intellectual disability (in some cases)

Diagnosis of OS-CS

OS-CS is typically diagnosed through a combination of clinical evaluations, radiographic studies, and genetic testing. A doctor may suspect OS-CS based on a patient's symptoms and family history. X-rays and other imaging tests can help identify bone abnormalities. Genetic testing can confirm a diagnosis by identifying mutations in the AMER1 gene.

NGS Genetic DNA Test for OS-CS

Next-generation sequencing (NGS) is a type of genetic testing that can analyze multiple genes simultaneously. This makes it a useful tool for diagnosing rare genetic disorders like OS-CS, which are caused by mutations in specific genes. The NGS genetic DNA test for OS-CS analyzes the AMER1 gene and can identify mutations that cause the condition.

Cost of NGS Genetic DNA Test for OS-CS

The cost of NGS genetic DNA testing for OS-CS in India is approximately INR 20,000. This cost may vary depending on the specific testing facility and any additional tests or services that may be required.

Conclusion

OS-CS is a rare genetic disorder that can cause a range of bone abnormalities and other symptoms. It is caused by mutations in the AMER1 gene and can be diagnosed through a combination of clinical evaluations, radiographic studies, and genetic testing. The NGS genetic DNA test for OS-CS can identify mutations in the AMER1 gene and is available in India for approximately INR 20,000.

At DNA Labs India, we offer a variety of genetic testing services, including NGS genetic DNA testing for OS-CS. Contact us today to learn more about our services and how we can help you get the answers you need.