Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC25A3 gene for Mitochondrial phosphate carrier deficiency

PreTest Information

Clinical History of Patient who is going for SLC25A3 Gene Mitochondrial phosphate carrier deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Mitochondrial phosphate carrier deficiency

Detail Description

SLC25A3 Gene Mitochondrial Phosphate Carrier Deficiency NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

SLC25A3 gene is responsible for encoding the mitochondrial phosphate carrier protein, which is an essential protein involved in the transport of phosphate across the mitochondrial inner membrane. Mitochondrial phosphate carrier deficiency is a rare genetic disorder that affects the function of the phosphate carrier protein. This disorder is caused by mutations in the SLC25A3 gene, which result in the reduced or absent activity of the phosphate carrier protein.

Symptoms of Mitochondrial Phosphate Carrier Deficiency

The symptoms of mitochondrial phosphate carrier deficiency can vary from person to person. Some common symptoms of this disorder include:

• Muscle weakness and fatigue
• Exercise intolerance
• Difficulty breathing
• Developmental delays in children
• Intellectual disability
• Seizures

Diagnosis of Mitochondrial Phosphate Carrier Deficiency

The diagnosis of mitochondrial phosphate carrier deficiency is made through genetic testing. Next-generation sequencing (NGS) is a powerful tool for identifying mutations in the SLC25A3 gene. This test can detect mutations in the gene with high accuracy and specificity.

The DNA sample for the test can be obtained from a blood sample or a cheek swab. The test is non-invasive and does not involve any risk to the patient.

Cost of NGS Genetic DNA Test for Mitochondrial Phosphate Carrier Deficiency

The cost of the NGS genetic DNA test for mitochondrial phosphate carrier deficiency in India is approximately INR 20,000. This cost may vary depending on the laboratory and the location of the test.

Conclusion

Mitochondrial phosphate carrier deficiency is a rare genetic disorder that can cause a range of symptoms, including muscle weakness, fatigue, and intellectual disability. Diagnosis of this disorder is made through genetic testing, such as NGS. The cost of the test in India is around INR 20,000. Early diagnosis of mitochondrial phosphate carrier deficiency can help in the management of symptoms and improve the quality of life of affected individuals.

If you suspect that you or a loved one may have mitochondrial phosphate carrier deficiency, it is important to consult a healthcare professional for further evaluation and testing.

For more information on genetic testing and DNA labs in India, 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 SLC25A3 Gene Mitochondrial phosphate carrier deficiency NGS Genetic DNA Test