Short Description

NGS genetic DNA test detecets for variant and mutation detection in C12orf57 gene for Temtamy syndrome

PreTest Information

Clinical History of Patient who is going for C12orf57 Gene Temtamy syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with C12orf57 Gene Temtamy syndrome NGS Genetic DNA Test gene C12orf57

Detail Description

C12orf57 Gene Temtamy Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Temtamy syndrome is a rare genetic disorder that affects the development of multiple organs and body systems. It is caused by mutations in the C12orf57 gene. The syndrome is characterized by intellectual disability, microcephaly, short stature, hearing loss, and distinctive facial features.

If you suspect that you or a loved one may have Temtamy syndrome, it is important to get a proper diagnosis. DNA Labs India offers NGS Genetic DNA Test for this syndrome at an affordable cost of INR:20000. This test is highly accurate and can identify mutations in the C12orf57 gene.

Symptoms of Temtamy Syndrome

The symptoms of Temtamy syndrome can vary in severity and may include:

• Intellectual disability
• Microcephaly (small head size)
• Short stature
• Hearing loss
• Distinctive facial features (such as a small jaw, a prominent nose, and widely spaced eyes)
• Seizures
• Heart defects
• Abnormalities of the fingers and toes

Diagnosis of Temtamy Syndrome

Diagnosis of Temtamy syndrome typically involves a physical examination, medical history review, and genetic testing. DNA Labs India offers NGS Genetic DNA Test for this syndrome. This test is highly accurate and can identify mutations in the C12orf57 gene. It involves a simple blood or saliva sample collection and analysis in the laboratory. The results of the test can help in proper diagnosis and management of the syndrome.

Conclusion

Temtamy syndrome is a rare genetic disorder that affects multiple organs and body systems. It is caused by mutations in the C12orf57 gene. DNA Labs India offers NGS Genetic DNA Test for this syndrome at an affordable cost of INR:20000. This test is highly accurate and can help in proper diagnosis and management of the syndrome. If you suspect that you or a loved one may have Temtamy syndrome, it is important to get a proper diagnosis and seek appropriate medical care.

The C12orf57 gene is associated with Temtamy syndrome, a rare genetic disorder also known as Temtamy-Shalash syndrome. This syndrome is characterized by a range of physical and developmental features that can vary widely among affected individuals.