Short Description

NGS genetic DNA test detecets for variant and mutation detection in TRIM37 gene for Mulibrey nanism

PreTest Information

Clinical History of Patient who is going for TRIM37 Gene Mulibrey nanism NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TRIM37 Gene Mulibrey nanism NGS Genetic DNA Test gene TRIM37

Detail Description

TRIM37 Gene Mulibrey Nanism NGS Genetic DNA Test: Symptoms, Diagnosis and Cost

Mulibrey nanism is a rare genetic disorder that affects growth and development. It is caused by mutations in the TRIM37 gene. This gene provides instructions for making a protein that is involved in the growth and maintenance of various tissues in the body. Mutations in the TRIM37 gene can lead to a wide range of symptoms and complications, including short stature, liver disease, heart defects, and vision problems.

Symptoms of Mulibrey Nanism

The symptoms of Mulibrey nanism can vary widely from person to person. However, some common symptoms may include:

• Short stature
• Liver disease
• Heart defects
• Vision problems
• Developmental delay
• Intellectual disability
• Abnormal facial features
• Small head size
• Low muscle tone

Diagnosis of Mulibrey Nanism

Mulibrey nanism is typically diagnosed based on the presence of characteristic symptoms, such as short stature and liver disease, as well as genetic testing. Specifically, a DNA test can be performed to detect mutations in the TRIM37 gene. This test can confirm a diagnosis of Mulibrey nanism and help guide treatment and management options.

TRIM37 Gene Mulibrey Nanism NGS Genetic DNA Test

The TRIM37 gene Mulibrey nanism NGS genetic DNA test is a specialized test that uses next-generation sequencing (NGS) technology to analyze the DNA of an individual. This test is designed to detect mutations in the TRIM37 gene that are associated with Mulibrey nanism. The test is highly accurate and can provide a definitive diagnosis in most cases. It is typically performed on a blood or saliva sample.

Cost of TRIM37 Gene Mulibrey Nanism NGS Genetic DNA Test

The cost of the TRIM37 gene Mulibrey nanism NGS genetic DNA test can vary depending on the laboratory performing the test and the specific details of the test itself. However, on average, the cost of this test in India is around INR 20,000. It is important to check with your insurance provider to see if the cost of the test is covered under your policy.

Conclusion

Mulibrey nanism is a rare genetic disorder that can have a significant impact on an individual's health and quality of life. However, with early diagnosis and appropriate treatment, many of the symptoms and complications associated with this disorder can be managed effectively. If you or a loved one are experiencing symptoms of Mulibrey nanism, it is important to speak with a healthcare professional and consider genetic testing, such as the TRIM37 gene Mulibrey nanism NGS genetic DNA test, to confirm a diagnosis and guide treatment options.

For more information about DNA testing and genetic disorders, please contact 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 TRIM37 Gene Mulibrey nanism NGS Genetic DNA Test