Short Description

NGS genetic DNA test detecets for variant and mutation detection in SOST gene for Craniodiaphyseal dysplasia, autosomal dominant

PreTest Information

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

Detail Description

SOST Gene Craniodiaphyseal Dysplasia: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Craniodiaphyseal dysplasia (CDD) is a rare genetic disorder that affects the bones of the skull, face, and limbs. It is caused by mutations in the SOST gene, which provides instructions for making a protein called sclerostin. Sclerostin is involved in the regulation of bone growth and mineralization. Mutations in the SOST gene lead to the overproduction of sclerostin, which results in abnormal bone development and mineralization.

Symptoms of SOST Gene Craniodiaphyseal Dysplasia

The symptoms of SOST gene craniodiaphyseal dysplasia can vary greatly from person to person, even among members of the same family. Some of the most common symptoms include:

• Thickening of the bones in the skull and face
• Enlargement of the jaw and facial bones
• Compression of cranial nerves, leading to hearing loss, vision problems, and facial paralysis
• Abnormal curvature of the spine
• Shortening of the limbs
• Joint pain and stiffness

These symptoms can be present at birth or develop later in life.

Diagnosis of SOST Gene Craniodiaphyseal Dysplasia

Diagnosing SOST gene craniodiaphyseal dysplasia can be challenging due to its rarity and variability in symptoms. A thorough physical examination and medical history can help identify the characteristic features of the disorder. Imaging tests, such as X-rays, CT scans, and MRI scans, can provide more detailed information about the bones and soft tissues.

Genetic testing can confirm the diagnosis of SOST gene craniodiaphyseal dysplasia. Next-generation sequencing (NGS) technology can analyze multiple genes simultaneously, allowing for faster and more accurate diagnosis. NGS genetic DNA testing typically costs around INR 20,000 in India.

Treatment of SOST Gene Craniodiaphyseal Dysplasia

There is currently no cure for SOST gene craniodiaphyseal dysplasia. Treatment aims to manage the symptoms and prevent complications. This may include:

• Pain management with medications
• Physical therapy and assistive devices to improve mobility
• Surgical interventions to relieve nerve compression or correct bone deformities

Regular monitoring and follow-up with a healthcare provider is essential to manage SOST gene craniodiaphyseal dysplasia effectively.

Conclusion

SOST gene craniodiaphyseal dysplasia is a rare genetic disorder that can cause a range of symptoms, including abnormal bone development and mineralization. Diagnosis can be challenging, but genetic testing using NGS technology can provide a faster and more accurate diagnosis. While there is no cure for SOST gene craniodiaphyseal dysplasia, treatment can help manage symptoms and prevent complications.

For more information about genetic testing for SOST gene craniodiaphyseal dysplasia, contact DNA Labs India.