Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC25A20 gene for Carnitine-acylcarnitine translocase deficiency

PreTest Information

Clinical History of Patient who is going for SLC25A20 Gene Carnitine-acylcarnitine translocase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Carnitine-acylcarnitine translocase deficiency

Detail Description

SLC25A20 Gene Carnitine-acylcarnitine translocase deficiency NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

SLC25A20 Gene Carnitine-acylcarnitine translocase deficiency is a rare inherited disorder that affects the way the body uses fats for energy. This disorder is caused by mutations in the SLC25A20 gene, which provides instructions for making a protein called carnitine-acylcarnitine translocase (CACT).

Symptoms of SLC25A20 Gene Carnitine-acylcarnitine translocase deficiency

The symptoms of SLC25A20 Gene Carnitine-acylcarnitine translocase deficiency may vary from person to person. Some of the common symptoms are:

• Low blood sugar levels (hypoglycemia)
• Enlarged liver (hepatomegaly)
• Enlarged heart (cardiomegaly)
• Poor weight gain and growth
• Muscle weakness and low muscle tone (hypotonia)
• Developmental delays and intellectual disability
• Seizures

Diagnosis of SLC25A20 Gene Carnitine-acylcarnitine translocase deficiency

SLC25A20 Gene Carnitine-acylcarnitine translocase deficiency can be diagnosed through genetic testing. A genetic test can identify mutations in the SLC25A20 gene, which confirms the diagnosis of this disorder.

NGS Genetic DNA Test cost INR:20000

DNA Labs India offers NGS Genetic DNA Test for SLC25A20 Gene Carnitine-acylcarnitine translocase deficiency at a cost of INR 20000. This test uses Next-Generation Sequencing (NGS) technology to identify mutations in the SLC25A20 gene.

Conclusion

SLC25A20 Gene Carnitine-acylcarnitine translocase deficiency is a rare inherited disorder that affects the way the body uses fats for energy. The symptoms of this disorder may vary from person to person and can be diagnosed through genetic testing. DNA Labs India offers NGS Genetic DNA Test for SLC25A20 Gene Carnitine-acylcarnitine translocase deficiency at a cost of INR 20000.

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 SLC25A20 Gene Carnitine-acylcarnitine translocase deficiency NGS Genetic DNA Test