Short Description

NGS genetic DNA test detecets for variant and mutation detection in ZNF81 gene for Mental retardation, X-linked type 45

PreTest Information

Clinical History of Patient who is going for ZNF81 Gene Mental retardation, X-linked type 45 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ZNF81 Gene Mental retardation, X-linked type 45

Detail Description

ZNF81 Gene and Mental Retardation, X-linked Type 45: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Mental retardation, also known as intellectual disability, is a condition characterized by significant limitations in cognitive functioning and adaptive behavior. It affects about 1-3% of the population worldwide and can be caused by a variety of genetic and environmental factors. One such genetic factor is the ZNF81 gene, which has been linked to X-linked mental retardation type 45 (MRX45). In this blog, we will discuss the symptoms, diagnosis, and NGS genetic DNA test cost for MRX45.

Symptoms of MRX45

MRX45 is a rare genetic disorder that primarily affects males. It is caused by mutations in the ZNF81 gene, which provides instructions for making a protein that plays a role in the development and function of the brain. The symptoms of MRX45 can vary widely, but typically include:

• Moderate to severe intellectual disability
• Delayed speech and language development
• Behavioral problems, such as hyperactivity and aggression
• Seizures
• Abnormal facial features, such as a prominent forehead and a small chin

These symptoms can be present from birth or may become apparent during early childhood. MRX45 is a lifelong condition that requires ongoing support and care.

Diagnosis of MRX45

MRX45 is diagnosed through genetic testing, which can identify mutations in the ZNF81 gene. This testing can be done using a variety of methods, including:

• Next-generation sequencing (NGS)
• Sanger sequencing
• PCR-based testing

NGS is a powerful and efficient method for genetic testing that can identify a wide range of genetic mutations. It is particularly useful for rare genetic disorders like MRX45.

NGS Genetic DNA Test Cost for MRX45

The cost of NGS genetic DNA testing for MRX45 can vary depending on the specific test and the laboratory performing the testing. In India, the cost of NGS genetic DNA testing for MRX45 is typically around INR 20,000.

It is important to note that genetic testing for MRX45 may not be covered by insurance and can be expensive. However, early diagnosis and intervention can improve outcomes for individuals with MRX45, making genetic testing an important tool for families affected by this condition.

Conclusion

MRX45 is a rare genetic disorder that can cause significant intellectual disability and other symptoms. Genetic testing, including NGS, can help diagnose this condition and provide important information for families affected by MRX45. While the cost of genetic testing for MRX45 can be high, early diagnosis and intervention can improve outcomes for individuals with this condition.

If you suspect that you or a family member may have MRX45, talk to your doctor about genetic testing options and the potential benefits and risks of testing.

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 ZNF81 Gene Mental retardation, X-linked type 45 NGS Genetic DNA Test