Short Description

NGS genetic DNA test detecets for variant and mutation detection in ORC4 gene for Meier-Gorlin syndrome type 2

PreTest Information

Clinical History of Patient who is going for ORC4 Gene Meier-Gorlin syndrome type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ORC4 Gene Meier-Gorlin syndrome type 2 NGS Genetic DNA Test gene ORC4

Detail Description

ORC4 Gene Meier-Gorlin Syndrome Type 2 NGS Genetic DNA Test Cost INR:20,000 Symptoms Diagnosis

Meier-Gorlin Syndrome (MGS) is a rare genetic disorder that affects multiple body parts, including small stature, small head size, and underdeveloped or missing kneecaps. It is a type of Primordial Dwarfism, and its prevalence is about 1 in 1,000,000 individuals worldwide. MGS is caused by mutations in several genes, including the ORC4 gene.

The ORC4 gene provides instructions for making a protein that is essential for the formation of the DNA replication complex. The DNA replication complex is responsible for the duplication of DNA molecules during cell division. Mutations in the ORC4 gene impair the formation of the DNA replication complex and lead to abnormal cell division, which causes MGS type 2.

Symptoms of MGS Type 2

The symptoms of MGS type 2 include:

• Small stature
• Small head size
• Underdeveloped or missing kneecaps
• Abnormal facial features, including small ears, a small jaw, and a small nose
• Abnormalities of the hands and feet, including underdeveloped or missing thumbs and toes
• Abnormalities of the ears, including underdeveloped or missing earlobes and a small ear canal

Diagnosis of MGS Type 2

MGS type 2 can be diagnosed through genetic testing. Next-generation sequencing (NGS) is a powerful tool for identifying mutations in the ORC4 gene. NGS is a type of DNA sequencing technology that can analyze millions of DNA molecules simultaneously. It is a highly accurate and efficient method for detecting genetic mutations.

The cost of the ORC4 Gene Meier-Gorlin Syndrome Type 2 NGS Genetic DNA Test in India is approximately INR 20,000. The test is available at DNA Labs India, a leading provider of genetic testing services in India.

Conclusion

MGS type 2 is a rare genetic disorder caused by mutations in the ORC4 gene. The symptoms of MGS type 2 include small stature, small head size, and underdeveloped or missing kneecaps. NGS genetic testing is an efficient and accurate method for diagnosing MGS type 2. The cost of the ORC4 Gene Meier-Gorlin Syndrome Type 2 NGS Genetic DNA Test in India is INR 20,000. If you suspect that you or someone you know may have MGS type 2, it is important to consult a healthcare professional for diagnosis and treatment.

For more information on genetic testing services in India, please visit DNA Labs India.

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 ORC4 Gene Meier-Gorlin syndrome type 2 NGS Genetic DNA Test