Short Description

NGS genetic DNA test detecets for variant and mutation detection in IBA57 gene for Multiple mitochondrial dysfunctions syndrome type 3

PreTest Information

Clinical History of Patient who is going for IBA57 Gene Multiple mitochondrial dysfunctions syndrome type 3 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with IBA57 Gene Multiple mitochondrial dysfunctions syndrome type 3

Detail Description

IBA57 Gene Multiple Mitochondrial Dysfunctions Syndrome Type 3 NGS Genetic DNA Test

Multiple mitochondrial dysfunctions syndrome (MMDS) is a rare genetic disorder that affects the functioning of mitochondria, the energy-producing structures in cells. MMDS type 3 is caused by mutations in the IBA57 gene, which provides instructions for making a protein that plays a critical role in the assembly of iron-sulfur clusters within mitochondria.

IBA57 gene mutations can result in a range of symptoms, including developmental delay, intellectual disability, seizures, muscle weakness, and movement disorders. The severity of symptoms can vary widely, even among individuals with the same mutation.

Symptoms of MMDS Type 3

The symptoms of MMDS type 3 can vary widely, even among individuals with the same mutation. However, some common symptoms include:

• Developmental delay
• Intellectual disability
• Seizures
• Muscle weakness
• Coordination problems
• Speech difficulties
• Vision problems
• Hearing loss

Diagnosis of MMDS Type 3

Diagnosis of MMDS type 3 is typically made through a combination of clinical evaluation, genetic testing, and imaging studies. A thorough medical history and physical examination can help identify characteristic symptoms of the condition. Genetic testing can confirm a diagnosis by identifying mutations in the IBA57 gene.

NGS Genetic DNA Test for MMDS Type 3

Next-generation sequencing (NGS) technology allows for rapid, accurate, and cost-effective sequencing of the entire IBA57 gene. This NGS genetic DNA test can identify mutations in the IBA57 gene that cause MMDS type 3 with a high degree of accuracy.

Cost of NGS Genetic DNA Test for MMDS Type 3

The cost of the NGS genetic DNA test for MMDS type 3 varies depending on the laboratory and location. In India, the cost of the test is typically around INR 20,000.

Conclusion

MMDS type 3 is a rare genetic disorder caused by mutations in the IBA57 gene. The condition can cause a range of symptoms, including developmental delay, intellectual disability, seizures, muscle weakness, and movement disorders. Diagnosis is typically made through a combination of clinical evaluation, genetic testing, and imaging studies. NGS genetic DNA testing can identify mutations in the IBA57 gene with a high degree of accuracy and is available at a cost of around INR 20,000 in India.

If you or a loved one is experiencing symptoms of MMDS type 3, it is important to speak with a healthcare professional for diagnosis and treatment. DNA Labs India offers a range of genetic testing services, including NGS genetic DNA testing for MMDS type 3. 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 IBA57 Gene Multiple mitochondrial dysfunctions syndrome type 3 NGS Genetic DNA Test