Short Description

NGS genetic DNA test detecets for variant and mutation detection in LYRM4 gene for Combined oxidative phosphorylation deficiency type 19

PreTest Information

Clinical History of Patient who is going for LYRM4 Gene Combined oxidative phosphorylation deficiency type 19 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 19

Detail Description

LYRM4 Gene Combined Oxidative Phosphorylation Deficiency Type 19 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

LYRM4 gene is responsible for the production of proteins that are involved in the process of oxidative phosphorylation, which is crucial for the production of energy in the cells. Combined oxidative phosphorylation deficiency type 19 (COXPD19) is a rare genetic disorder that is caused by mutations in the LYRM4 gene. This disorder affects the functioning of the mitochondria, which leads to a deficiency in energy production.

Symptoms of COXPD19

The symptoms of COXPD19 can vary from person to person. However, some common symptoms include:

• Developmental delay
• Seizures
• Difficulty breathing
• Heart problems
• Muscle weakness
• Lactic acidosis

Diagnosis of COXPD19

A diagnosis of COXPD19 can be made through genetic testing. Next-generation sequencing (NGS) is a type of genetic testing that can identify mutations in the LYRM4 gene. This test is highly accurate and can provide a definitive diagnosis of COXPD19.

Cost of NGS Genetic DNA Test for COXPD19

The cost of NGS genetic DNA test for COXPD19 in India is around INR 20,000. This cost may vary depending on the laboratory and the location.

Conclusion

COXPD19 is a rare genetic disorder that can cause a range of symptoms. However, with the help of genetic testing, a definitive diagnosis can be made. NGS genetic DNA test for COXPD19 is a highly accurate and reliable test that can help in the diagnosis of this disorder. If you suspect that you or your child may have COXPD19, it is important to consult a genetic counselor or a healthcare professional for further evaluation and testing.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS genetic DNA test for COXPD19. Our team of experts is dedicated to providing accurate and reliable results to our clients. Contact us today to learn more about our services.

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 LYRM4 Gene Combined oxidative phosphorylation deficiency type 19 NGS Genetic DNA Test