Short Description

NGS genetic DNA test detecets for variant and mutation detection in FBXL4 gene for Mitochondrial DNA depletion syndrome type 13

PreTest Information

Clinical History of Patient who is going for FBXL4 Gene Mitochondrial DNA depletion syndrome type 13 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with FBXL4 Gene Mitochondrial DNA depletion syndrome type 13

Detail Description

FBXL4 Gene Mitochondrial DNA Depletion Syndrome Type 13 NGS Genetic DNA Test

DNA Labs India offers an NGS Genetic DNA test for FBXL4 Gene Mitochondrial DNA Depletion Syndrome Type 13 at a cost of INR 20,000. This test helps in the identification of symptoms and diagnosis of the syndrome.

Symptoms of FBXL4 Gene Mitochondrial DNA Depletion Syndrome Type 13

This syndrome is a rare condition that affects the nervous system and leads to developmental delays, muscle weakness, and other complications. The symptoms of FBXL4 Gene Mitochondrial DNA Depletion Syndrome Type 13 may include:

• Developmental delays
• Muscle weakness
• Difficulty in walking
• Seizures
• Optic atrophy
• Hearing loss

The symptoms may vary from person to person and can range from mild to severe.

Diagnosis of FBXL4 Gene Mitochondrial DNA Depletion Syndrome Type 13

The diagnosis of FBXL4 Gene Mitochondrial DNA Depletion Syndrome Type 13 is done through genetic testing. The NGS Genetic DNA test offered by DNA Labs India helps in the identification of mutations in the FBXL4 gene that may cause the syndrome.

The test involves the collection of a blood sample from the patient, which is then analyzed in the laboratory. The results of the test can help in confirming the diagnosis of FBXL4 Gene Mitochondrial DNA Depletion Syndrome Type 13.

Cost of NGS Genetic DNA Test

The cost of the NGS Genetic DNA test for FBXL4 Gene Mitochondrial DNA Depletion Syndrome Type 13 offered by DNA Labs India is INR 20,000. This cost includes the collection of the blood sample, analysis of the sample in the laboratory, and the generation of a detailed report.

Conclusion

The NGS Genetic DNA test offered by DNA Labs India for FBXL4 Gene Mitochondrial DNA Depletion Syndrome Type 13 is an important diagnostic tool that can help in the identification of symptoms and confirmation of diagnosis. The cost of the test is reasonable, and the results are accurate and reliable. If you or someone you know is experiencing symptoms of FBXL4 Gene Mitochondrial DNA Depletion Syndrome Type 13, it is recommended to consult a healthcare professional and get a genetic test done.

For more information on genetic testing and DNA analysis, visit DNA Labs India.

Mitochondrial DNA Depletion Syndrome Type 13 (MTDPS13) is a rare genetic disorder that affects mitochondrial function and results in a depletion of mitochondrial DNA. Mutations in the FBXL4 gene have been associated with this syndrome.

The FBXL4 gene provides instructions for producing a protein that plays a role in mitochondrial function and maintenance. Mutations in this gene can lead to dysfunction of the mitochondria, which are the energy-producing structures within cells. MTDPS13 can manifest with symptoms such as developmental delays, seizures, muscle weakness, and other neurological and metabolic issues.

An NGS (Next-Generation Sequencing) genetic DNA test for the FBXL4 gene involves sequencing the DNA to identify any mutations or variations within the gene that could be linked to Mitochondrial DNA Depletion Syndrome Type 13. This testing can help diagnose the condition and identify individuals who carry mutations in the FBXL4 gene.

If you suspect that you or someone you know may have Mitochondrial DNA Depletion Syndrome Type 13 or if there's a family history of the condition, it's important to consult with a medical geneticist, pediatric neurologist, or medical professional familiar with mitochondrial disorders. They can guide you through the genetic testing process, interpret the results, and provide appropriate recommendations for management and treatment based on the specific genetic findings.