Short Description

NGS genetic DNA test detecets for variant and mutation detection in ANKH gene for Craniometaphyseal dysplasia

PreTest Information

Clinical History of Patient who is going for ANKH Gene Craniometaphyseal dysplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ANKH Gene Craniometaphyseal dysplasia NGS Genetic DNA Test gene ANKH

Detail Description

ANKH Gene Craniometaphyseal Dysplasia NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Craniometaphyseal dysplasia (CMD) is a rare genetic disorder that affects the development and growth of bones in the skull and metaphyseal regions of long bones. This disorder is caused by mutations in the ANKH gene that encodes a protein responsible for regulating the transport of inorganic pyrophosphate (PPi) in the extracellular matrix of bone tissue.

The ANKH gene is located on chromosome 5q14.3 and is expressed in chondrocytes, osteoblasts, and osteocytes. Mutations in this gene can lead to increased levels of PPi in the extracellular matrix, which can inhibit mineralization and lead to abnormal bone growth and development.

Symptoms of CMD

The symptoms of CMD vary widely from person to person and can range from mild to severe. Some common symptoms of CMD include:

• Abnormal bone growth in the skull and long bones
• Facial disfigurement
• Delayed motor development
• Seizures
• Hearing loss
• Headaches
• Dental problems

Diagnosis of CMD

Diagnosis of CMD is usually based on clinical symptoms, radiographic findings, and genetic testing. Radiographic findings may include thickened skull bones, widened metaphyses of long bones, and sclerosis of the cranial base. Genetic testing can confirm the presence of ANKH gene mutations.

NGS Genetic DNA Test for CMD

Next-generation sequencing (NGS) genetic DNA testing is a powerful tool for diagnosing CMD. This test can analyze the entire coding region of the ANKH gene and detect mutations with high accuracy and sensitivity. NGS genetic DNA testing is a non-invasive test that requires only a small blood sample.

Cost of NGS Genetic DNA Test for CMD

The cost of NGS genetic DNA testing for CMD in India is approximately INR 20,000. This cost may vary depending on the laboratory and location.

Conclusion

Craniometaphyseal dysplasia is a rare genetic disorder that can cause abnormal bone growth and development. Diagnosis of CMD is based on clinical symptoms, radiographic findings, and genetic testing. NGS genetic DNA testing is a powerful tool for diagnosing CMD and can detect ANKH gene mutations with high accuracy and sensitivity. The cost of NGS genetic DNA testing for CMD in India is approximately INR 20,000.

For more information about CMD and NGS genetic DNA testing, contact DNA Labs India.