Short Description

NGS genetic DNA test detecets for variant and mutation detection in ORC1 gene for Meier-Gorlin syndrome type 1

PreTest Information

Clinical History of Patient who is going for ORC1 Gene Meier-Gorlin syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ORC1 Gene Meier-Gorlin syndrome type 1 NGS Genetic DNA Test gene ORC1

Detail Description

ORC1 Gene Meier-Gorlin syndrome type 1 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Meier-Gorlin syndrome type 1 (MGS1) is a rare genetic disorder that affects growth and development. It is caused by a mutation in the ORC1 gene. The ORC1 gene provides instructions for making a protein that is involved in the process of DNA replication. This protein plays a critical role in ensuring that DNA is replicated properly during cell division.

MGS1 is characterized by a small head size (microcephaly), short stature, and small ears. Affected individuals may also have abnormalities of the bones in their hands and fingers. Other features of MGS1 can include a small jaw (micrognathia), a narrow forehead, and a short nose.

The diagnosis of MGS1 is made based on clinical findings and genetic testing. Next-generation sequencing (NGS) is a type of genetic testing that can be used to identify mutations in the ORC1 gene. This test can be done using a blood or saliva sample and typically costs around INR 20000.

Early diagnosis of MGS1 is important, as it can help with management and treatment of the condition. Treatment may involve a team of specialists, depending on the symptoms present. For example, a pediatrician may be involved in managing growth and development, while an orthopedic surgeon may be needed to address bone abnormalities.

If you or a loved one are experiencing symptoms of MGS1, it is important to speak with a healthcare provider. They can help determine if genetic testing is necessary and provide guidance on next steps.

At DNA Labs India, we offer ORC1 Gene Meier-Gorlin syndrome type 1 NGS Genetic DNA Test at affordable cost. Contact us today to learn more.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for ORC1 Gene Meier-Gorlin syndrome type 1 NGS Genetic DNA Test