Short Description

NGS genetic DNA test detecets for variant and mutation detection in CTSK gene for Pycnodysostosis

PreTest Information

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

Detail Description

CTSK Gene Pycnodysostosis NGS Genetic DNA Test

Pycnodysostosis is a rare genetic disorder caused by mutations in the CTSK gene. This gene provides instructions for making an enzyme called cathepsin K, which is involved in the breakdown and remodeling of bone tissue. Mutations in the CTSK gene lead to the production of a nonfunctional or partially functional enzyme, which results in the characteristic features of Pycnodysostosis.

Symptoms of Pycnodysostosis

• Abnormally shaped bones
• Short stature
• Dental problems
• Increased risk of fractures
• Delayed closure of the fontanelles (soft spots) on the skull in infants
• Delayed eruption of teeth
• Increased spacing between teeth
• Abnormal curvature of the spine
• Small, underdeveloped fingernails and toenails

Diagnosis of Pycnodysostosis

Doctors can diagnose Pycnodysostosis through a physical examination and a genetic test. The physical examination may include a review of the patient's medical history, a physical exam, and imaging tests. Genetic testing can confirm the diagnosis by identifying mutations in the CTSK gene.

CTSK Gene Pycnodysostosis NGS Genetic DNA Test Cost

The cost of the CTSK Gene Pycnodysostosis NGS Genetic DNA Test at DNA Labs India is INR 20,000.

Conclusion

Pycnodysostosis is a rare genetic disorder caused by mutations in the CTSK gene. The disorder is characterized by abnormal bone development, dental problems, and an increased risk of fractures. Diagnosis is made through a physical examination and a genetic test. The cost of the CTSK Gene Pycnodysostosis NGS Genetic DNA Test at DNA Labs India is INR 20,000.