Short Description

NGS genetic DNA test detecets for variant and mutation detection in NARS2 gene for Combined oxidative phosphorylation deficiency type 24

PreTest Information

Clinical History of Patient who is going for NARS2 Gene Combined oxidative phosphorylation deficiency type 24 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 24

Detail Description

NARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 24 NGS Genetic DNA Test

DNA Labs India offers the NARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 24 NGS Genetic DNA Test for INR 20,000. This test is designed to detect mutations in the NARS2 gene that are associated with combined oxidative phosphorylation deficiency type 24 (COXPD24).

Symptoms of COXPD24

COXPD24 is a rare genetic disorder that affects the mitochondria, which are the energy-producing structures within cells. This disorder can cause a wide range of symptoms, including:

• Developmental delay and intellectual disability
• Weak muscle tone (hypotonia)
• Muscle weakness and wasting (atrophy)
• Seizures
• Abnormal eye movements (nystagmus)
• Lactic acidosis

Diagnosis of COXPD24

COXPD24 is diagnosed through a combination of clinical evaluation, genetic testing, and laboratory testing. The NARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 24 NGS Genetic DNA Test offered by DNA Labs India can detect mutations in the NARS2 gene that are associated with this disorder.

The Importance of Genetic Testing

Genetic testing can play a crucial role in the diagnosis and management of rare genetic disorders like COXPD24. Early diagnosis can help patients and families better understand the condition and its potential complications, and can inform treatment decisions. Genetic testing can also help identify carriers of the mutation, allowing for informed family planning decisions.

Cost of the NARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 24 NGS Genetic DNA Test

The NARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 24 NGS Genetic DNA Test is available at DNA Labs India for INR 20,000. This cost includes the cost of the test kit, sample collection, and analysis.

Conclusion

The NARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 24 NGS Genetic DNA Test offered by DNA Labs India is a valuable tool in the diagnosis and management of COXPD24. Early diagnosis can help improve outcomes for patients and families affected by this rare genetic disorder.

Contact DNA Labs India to learn more about genetic testing and the NARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 24 NGS Genetic DNA Test.

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 NARS2 Gene Combined oxidative phosphorylation deficiency type 24 NGS Genetic DNA Test