Short Description

NGS genetic DNA test detecets for variant and mutation detection in SFXN4 gene for Combined oxidative phosphorylation deficiency type 18

PreTest Information

Clinical History of Patient who is going for SFXN4 Gene Combined oxidative phosphorylation deficiency type 18 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 18

Detail Description

SFXN4 Gene: Combined Oxidative Phosphorylation Deficiency Type 18 NGS Genetic DNA Test

Are you experiencing symptoms such as muscle weakness, respiratory distress, or developmental delays? You may be suffering from Combined Oxidative Phosphorylation Deficiency Type 18 (COXPD18), which is caused by mutations in the SFXN4 gene. The good news is that there is now an NGS genetic DNA test available to diagnose this condition. Here's what you need to know:

What is COXPD18?

COXPD18 is a rare genetic disorder that affects the mitochondria, which are responsible for producing energy in cells. It is caused by mutations in the SFXN4 gene, which is involved in the assembly of mitochondrial respiratory chain complexes. Without proper functioning of these complexes, the body cannot generate enough energy, leading to the symptoms of COXPD18.

What are the symptoms of COXPD18?

The symptoms of COXPD18 can vary widely, even among family members who have the same mutation. Some common symptoms include:

• Muscle weakness and fatigue
• Respiratory distress
• Developmental delays
• Seizures
• Visual impairments
• Intellectual disability

Because these symptoms can be caused by many different conditions, it is important to get a proper diagnosis through genetic testing.

How is COXPD18 diagnosed?

The most reliable way to diagnose COXPD18 is through genetic testing, specifically an NGS genetic DNA test. This test looks for mutations in the SFXN4 gene and can confirm a diagnosis of COXPD18.

What is the cost of the NGS genetic DNA test for COXPD18?

The cost of the NGS genetic DNA test for COXPD18 in India is INR 20,000. This may vary depending on the testing facility, but it is a relatively affordable option for a genetic test.

What are the benefits of getting a genetic test for COXPD18?

Getting a genetic test for COXPD18 can provide several benefits:

• Confirming a diagnosis: Genetic testing can definitively confirm whether or not you have COXPD18, which can help guide treatment options.
• Informing family planning: If you have a child with COXPD18, genetic testing can help determine the chances of having another child with the condition.
• Identifying carriers: Even if you do not have COXPD18, genetic testing can identify whether you are a carrier of the condition. This can be important information for family planning.

Conclusion

If you or a loved one is experiencing symptoms of COXPD18, it is important to get a proper diagnosis through genetic testing. An NGS genetic DNA test can confirm whether or not you have mutations in the SFXN4 gene, which can help guide treatment options and inform family planning. The cost of the test is relatively affordable in India, making it an accessible option for those seeking a diagnosis.

For more information on COXPD18 and genetic testing, 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 SFXN4 Gene Combined oxidative phosphorylation deficiency type 18 NGS Genetic DNA Test