Short Description

NGS genetic DNA test detecets for variant and mutation detection in POLG gene for Mitochondrial DNA depletion syndrome type 4A

PreTest Information

Clinical History of Patient who is going for POLG Gene Mitochondrial DNA depletion syndrome type 4A NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with POLG Gene Mitochondrial DNA depletion syndrome type 4A

Detail Description

POLG Gene Mitochondrial DNA Depletion Syndrome Type 4A NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Mitochondrial DNA depletion syndrome (MDS) is a group of rare genetic disorders that affect the function of mitochondria, the energy-producing structures in cells. One type of MDS is caused by mutations in the POLG gene, which encodes an enzyme involved in mitochondrial DNA replication and repair. POLG gene MDS type 4A is a severe form of the disease that typically begins in infancy or early childhood and is characterized by progressive muscle weakness, developmental delay, seizures, and liver dysfunction.

Symptoms of POLG Gene Mitochondrial DNA Depletion Syndrome Type 4A

The symptoms of POLG gene MDS type 4A can vary widely, but typically include:

• Progressive muscle weakness and wasting
• Developmental delay and intellectual disability
• Seizures
• Liver dysfunction
• Respiratory failure
• Visual impairment
• Hearing loss

Diagnosis of POLG Gene Mitochondrial DNA Depletion Syndrome Type 4A

Diagnosing POLG gene MDS type 4A can be challenging, as the symptoms can be similar to those of other neurological disorders. A definitive diagnosis can be made through genetic testing, specifically Next-Generation Sequencing (NGS) Genetic DNA Test which can identify mutations in the POLG gene. Other tests that may be used to diagnose the disease include blood tests, muscle biopsies, and brain imaging.

Cost of POLG Gene Mitochondrial DNA Depletion Syndrome Type 4A NGS Genetic DNA Test

The cost of the POLG gene Mitochondrial DNA depletion syndrome type 4A NGS Genetic DNA Test in India is typically around INR 20,000. The test is performed by specialized laboratories that use advanced sequencing technologies to analyze DNA samples collected from the patient. The test results can help doctors make an accurate diagnosis, which is essential for providing appropriate treatment and management.

Conclusion

POLG gene Mitochondrial DNA depletion syndrome type 4A is a rare but severe genetic disorder that can cause a wide range of symptoms, including muscle weakness, developmental delay, and seizures. Diagnosis of the disease can be challenging, but NGS Genetic DNA Test can accurately identify mutations in the POLG gene, which is essential for providing appropriate treatment and management. If you or a loved one is experiencing symptoms of POLG gene MDS type 4A, it is important to speak with a healthcare professional who can provide guidance and support.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS Genetic DNA Test for POLG gene Mitochondrial DNA depletion syndrome type 4A. Our state-of-the-art facilities and experienced team of genetic counselors and scientists ensure accurate and reliable test results. Contact us today to learn more about our services and how we can help you.

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 POLG Gene Mitochondrial DNA depletion syndrome type 4A NGS Genetic DNA Test