Short Description

NGS genetic DNA test detecets for variant and mutation detection in TRMU gene for Liver failure transient infantile

PreTest Information

Clinical History of Patient who is going for TRMU Gene Liver failure transient infantile NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TRMU Gene Liver failure transient infantile NGS Genetic DNA Test gene TRMU

Detail Description

TRMU Gene and Liver Failure Transient Infantile: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Liver failure transient infantile is a rare genetic disorder that affects infants. It is caused by mutations in the TRMU gene, which is responsible for encoding the mitochondrial tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase enzyme. This enzyme is essential for the proper functioning of the mitochondria, which are responsible for producing energy for the cells.

The symptoms of liver failure transient infantile usually appear within the first few weeks of life. They include poor feeding, vomiting, diarrhea, jaundice, low muscle tone, and respiratory distress. Infants with this condition may also have seizures and developmental delays.

Diagnosis of liver failure transient infantile can be made through genetic testing. Next-generation sequencing (NGS) genetic DNA tests are commonly used to identify mutations in the TRMU gene. These tests can detect mutations in multiple genes at once, making them a more efficient and cost-effective way to diagnose rare genetic disorders.

The cost of an NGS genetic DNA test for liver failure transient infantile can vary depending on the specific test and the laboratory performing it. In India, the cost of such a test is typically around INR 20,000.

It is important for parents to seek medical attention if they suspect their child may have liver failure transient infantile. Early diagnosis and treatment can improve the outcome for infants with this condition. Treatment may include medications to support liver function and nutritional support.

In conclusion, liver failure transient infantile is a rare genetic disorder caused by mutations in the TRMU gene. Symptoms usually appear within the first few weeks of life and can include poor feeding, vomiting, diarrhea, and respiratory distress. Diagnosis can be made through NGS genetic DNA testing, which typically costs around INR 20,000 in India. Early diagnosis and treatment are important for improving outcomes for infants with this condition.

If you suspect that your child may have liver failure transient infantile, we recommend seeking medical attention immediately. DNA Labs India offers NGS genetic DNA testing for a wide range of genetic disorders, including liver failure transient infantile. Contact us today to learn more.