Short Description

NGS genetic DNA test detecets for variant and mutation detection in OFD1 gene for Oral-facial-digital syndrome type 1

PreTest Information

Clinical History of Patient who is going for OFD1 Gene Oral-facial-digital syndrome type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with OFD1 Gene Oral-facial-digital syndrome type 1

Detail Description

OFD1 Gene: Oral-Facial-Digital Syndrome Type 1 NGS Genetic DNA Test

Oral-Facial-Digital Syndrome Type 1 (OFD1) is a genetic disorder that affects the development of the face, oral cavity, and digits. This syndrome is caused by mutations in the OFD1 gene which is located on the X chromosome. OFD1 affects males and females, but the severity of the symptoms and the pattern of inheritance differ between the two sexes.

Symptoms of OFD1 Gene Mutation

The symptoms of OFD1 gene mutation can vary widely in severity and may include:

• Cleft lip and/or palate
• Abnormal placement or absence of teeth
• Enlarged tongue
• Extra fingers or toes
• Abnormalities in the development of the brain
• Kidney problems
• Abnormalities in the development of the eyes

Diagnosis of OFD1 Gene Mutation

OFD1 Gene Mutation can be diagnosed through a genetic test called Next Generation Sequencing (NGS). This test analyzes the DNA sequence of the OFD1 gene and identifies any mutations or changes that may be present.

NGS Genetic DNA Test Cost

The cost of the OFD1 Gene Mutation NGS Genetic DNA Test is INR 20,000. This test is available at DNA Labs India, a leading genetic testing laboratory in India.

Conclusion

The OFD1 Gene Mutation NGS Genetic DNA Test is a valuable tool for the diagnosis of Oral-Facial-Digital Syndrome Type 1. Early diagnosis and intervention can help individuals with this condition live a better quality of life. If you suspect that you or a loved one may have OFD1, talk to your doctor about genetic testing and contact DNA Labs India for more information on the OFD1 Gene Mutation NGS Genetic DNA Test.