Short Description

NGS genetic DNA test detecets for variant and mutation detection in SF3B4 gene for Acrofacial dysostosis 1, Nager type

PreTest Information

Clinical History of Patient who is going for SF3B4 Gene Acrofacial dysostosis 1, Nager type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SF3B4 Gene Acrofacial dysostosis 1, Nager type NGS Genetic DNA Test gene SF3B4

Detail Description

SF3B4 Gene Acrofacial dysostosis 1, Nager type NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

Acrofacial dysostosis is a rare genetic disorder that affects the development of bones in the face and limbs. It is caused by mutations in several different genes, including the SF3B4 gene. The SF3B4 gene provides instructions for making a protein that is involved in RNA splicing, which is a process that helps to create functional proteins from genetic instructions.

Symptoms of Acrofacial dysostosis

Acrofacial dysostosis is characterized by a range of physical abnormalities, including:

• Underdeveloped cheekbones
• Small jaw
• Cleft palate
• Abnormal ear development
• Short fingers and toes
• Missing or abnormal bones in the arms and legs

These physical abnormalities can cause significant functional problems for individuals with Acrofacial dysostosis, including difficulty eating and speaking, hearing loss, and problems with mobility.

Diagnosis of Acrofacial dysostosis

Diagnosis of Acrofacial dysostosis typically involves a physical exam, medical history review, and genetic testing. Genetic testing can help to identify mutations in genes like SF3B4 that are associated with Acrofacial dysostosis.

NGS Genetic DNA Test for SF3B4 Gene Acrofacial dysostosis 1, Nager type

NGS Genetic DNA testing is a powerful tool that can help to identify mutations in genes like SF3B4 that are associated with Acrofacial dysostosis. This test can be used to confirm a diagnosis of Acrofacial dysostosis and can also be used to identify carriers of the condition.

Cost of NGS Genetic DNA Test for SF3B4 Gene Acrofacial dysostosis 1, Nager type

The cost of the NGS Genetic DNA test for SF3B4 Gene Acrofacial dysostosis 1, Nager type varies depending on the testing facility. At DNA Labs India, the cost of this test is INR 20,000.

Conclusion

Acrofacial dysostosis is a rare genetic disorder that can cause significant physical and functional problems. Genetic testing, including the NGS Genetic DNA test for SF3B4 Gene Acrofacial dysostosis 1, Nager type, can help to confirm a diagnosis and identify carriers of the condition. If you or a loved one are experiencing symptoms of Acrofacial dysostosis, talk to your doctor about genetic testing options.