Short Description

NGS genetic DNA test detecets for variant and mutation detection in CDT1 gene for Meier-Gorlin syndrome type 4

PreTest Information

Clinical History of Patient who is going for CDT1 Gene Meier-Gorlin syndrome type 4 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CDT1 Gene Meier-Gorlin syndrome type 4 NGS Genetic DNA Test gene CDT1

Detail Description

CDT1 Gene Meier-Gorlin Syndrome Type 4 NGS Genetic DNA Test Cost INR:20,000 Symptoms Diagnosis

Meier-Gorlin Syndrome (MGS) is a rare genetic disorder that affects skeletal development and growth. It is caused by mutations in several genes, including the CDT1 gene, which is responsible for DNA replication during cell division. MGS is characterized by small stature, microcephaly (small head size), and abnormal ear shape. Type 4 Meier-Gorlin Syndrome is caused by mutations in the CDT1 gene, and NGS Genetic DNA testing can be used to diagnose this condition.

Symptoms of Meier-Gorlin Syndrome Type 4

The symptoms of Meier-Gorlin Syndrome Type 4 are similar to those of other types of Meier-Gorlin Syndrome. These include:

• Small stature
• Microcephaly (small head size)
• Abnormal ear shape
• Underdeveloped or absent kneecaps
• Narrow chest and ribs
• Abnormal fingers and toes
• Small or absent nails

Diagnosis of Meier-Gorlin Syndrome Type 4

The diagnosis of Meier-Gorlin Syndrome Type 4 is typically made through genetic testing. NGS Genetic DNA testing can be used to identify mutations in the CDT1 gene that are associated with this condition. A genetic counselor can help determine if testing is appropriate and provide guidance on the testing process.

Cost of NGS Genetic DNA Testing for Meier-Gorlin Syndrome Type 4

The cost of NGS Genetic DNA testing for Meier-Gorlin Syndrome Type 4 varies depending on the laboratory and the specific test ordered. At DNA Labs India, the cost for this test is INR 20,000.

Conclusion

Meier-Gorlin Syndrome Type 4 is a rare genetic disorder that affects skeletal development and growth. NGS Genetic DNA testing can be used to diagnose this condition by identifying mutations in the CDT1 gene. The cost of this test at DNA Labs India is INR 20,000. If you or a loved one is experiencing symptoms of Meier-Gorlin Syndrome Type 4, speak with a genetic counselor about the testing process and options for diagnosis.