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 SLC25A3 Gene Mitochondrial phosphate carrier deficiency NGS Genetic DNA Test gene SLC25A3

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 (MPC), which plays a crucial role in the transportation of phosphate ions into the mitochondria. A deficiency in this gene can cause mitochondrial phosphate carrier deficiency (MPD), a rare genetic disorder that affects the energy metabolism of the body.

Symptoms of SLC25A3 Gene Mitochondrial Phosphate Carrier Deficiency

The symptoms of SLC25A3 gene mitochondrial phosphate carrier deficiency can vary from person to person. Some of the common symptoms include:

• Developmental delay
• Intellectual disability
• Weak muscle tone (hypotonia)
• Difficulty in breathing
• Heart abnormalities
• Seizures
• Lactic acidosis

Diagnosis of SLC25A3 Gene Mitochondrial Phosphate Carrier Deficiency

A definitive diagnosis of SLC25A3 gene mitochondrial phosphate carrier deficiency can be made through genetic testing. Next-generation sequencing (NGS) is a high-throughput DNA sequencing technology that can analyze multiple genes simultaneously. NGS genetic DNA test can identify mutations in the SLC25A3 gene and confirm the diagnosis of MPD.

Cost of SLC25A3 Gene Mitochondrial Phosphate Carrier Deficiency NGS Genetic DNA Test

The cost of SLC25A3 gene mitochondrial phosphate carrier deficiency NGS genetic DNA test in India is around INR 20,000. The cost may vary depending on the diagnostic center and the location.

Conclusion

SLC25A3 gene mitochondrial phosphate carrier deficiency is a rare genetic disorder that can cause developmental delay, intellectual disability, weak muscle tone, and heart abnormalities. NGS genetic DNA test can identify mutations in the SLC25A3 gene and confirm the diagnosis of MPD. The cost of the test may vary depending on the diagnostic center and the location.

If you suspect that you or your child may have SLC25A3 gene mitochondrial phosphate carrier deficiency, consult a genetic counselor or a healthcare professional for further evaluation and diagnosis.