Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC25A13 gene for Citrin deficiency

PreTest Information

Clinical History of Patient who is going for SLC25A13 Gene Citrin deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Citrin deficiency

Detail Description

SLC25A13 Gene Citrin deficiency NGS Genetic DNA Test

SLC25A13 gene citrin deficiency is a rare genetic disorder that affects the liver's ability to process certain amino acids and sugars. It is caused by mutations in the SLC25A13 gene and is inherited in an autosomal recessive manner. The disorder is more common in people of Asian descent.

NGS Genetic DNA Test is a highly accurate and reliable test that can detect mutations in the SLC25A13 gene. The test uses Next Generation Sequencing (NGS) technology, which allows for the analysis of large amounts of genetic data in a short amount of time.

Symptoms of SLC25A13 Gene Citrin Deficiency

The symptoms of SLC25A13 gene citrin deficiency can vary depending on the age of onset and the severity of the disorder. Some common symptoms include:

• Jaundice
• Enlarged liver and spleen
• Poor weight gain and growth
• Low blood sugar
• High levels of ammonia in the blood
• Developmental delays
• Seizures

Diagnosis of SLC25A13 Gene Citrin Deficiency

SLC25A13 gene citrin deficiency can be diagnosed through a combination of clinical evaluation, blood tests, and genetic testing. A doctor may suspect the disorder based on the symptoms and family history. Blood tests can detect high levels of ammonia and abnormal liver function tests. Genetic testing can confirm the presence of mutations in the SLC25A13 gene.

Cost of SLC25A13 Gene Citrin Deficiency NGS Genetic DNA Test

The cost of the SLC25A13 gene citrin deficiency NGS Genetic DNA Test in India is INR 20,000. This includes the cost of sample collection, testing, and genetic counseling.

Conclusion

SLC25A13 gene citrin deficiency is a rare genetic disorder that can have serious consequences if left untreated. NGS Genetic DNA Test is a reliable and accurate test that can detect mutations in the SLC25A13 gene. If you suspect that you or a loved one may have the disorder, it is important to seek medical attention and get tested.

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 SLC25A13 Gene Citrin deficiency NGS Genetic DNA Test