Short Description

NGS genetic DNA test detecets for variant and mutation detection in TWNK gene for Mitochondrial DNA depletion syndrome type 7

PreTest Information

Clinical History of Patient who is going for TWNK Gene Mitochondrial DNA depletion syndrome type 7 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TWNK Gene Mitochondrial DNA depletion syndrome type 7

Detail Description

TWNK Gene Mitochondrial DNA depletion syndrome type 7 NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

DNA Labs India is a premier genetic testing laboratory in India that provides a wide range of genetic testing services, including the TWNK Gene Mitochondrial DNA depletion syndrome type 7 NGS Genetic DNA Test. This test is used to diagnose a rare genetic disorder called Mitochondrial DNA depletion syndrome type 7, which is caused by mutations in the TWNK gene.

Symptoms of Mitochondrial DNA depletion syndrome type 7

The symptoms of this disorder usually appear in early childhood and can vary widely depending on the severity of the condition. Some common symptoms include:

• Progressive muscle weakness
• Loss of motor skills
• Developmental delays
• Seizures
• Difficulty swallowing
• Respiratory problems
• Liver failure
• Encephalopathy

Diagnosis of Mitochondrial DNA depletion syndrome type 7

The diagnosis of this disorder is based on a combination of clinical symptoms, family history, and genetic testing. The TWNK Gene Mitochondrial DNA depletion syndrome type 7 NGS Genetic DNA Test is a highly accurate and reliable test that can detect mutations in the TWNK gene.

This test uses next-generation sequencing (NGS) technology to analyze the entire coding region of the TWNK gene. The test requires a blood or saliva sample from the patient and can be performed in just a few days.

Cost of TWNK Gene Mitochondrial DNA depletion syndrome type 7 NGS Genetic DNA Test

The cost of this test at DNA Labs India is INR 20,000. This cost includes the genetic counseling session with a certified genetic counselor.

Conclusion

The TWNK Gene Mitochondrial DNA depletion syndrome type 7 NGS Genetic DNA Test is an important diagnostic tool for identifying mutations in the TWNK gene that cause Mitochondrial DNA depletion syndrome type 7. If you or someone you know is experiencing symptoms of this disorder, it is important to talk to a healthcare professional and consider genetic testing.

At DNA Labs India, we are committed to providing the highest quality genetic testing services at an affordable price. 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 TWNK Gene Mitochondrial DNA depletion syndrome type 7 NGS Genetic DNA Test