Short Description

NGS genetic DNA test detecets for variant and mutation detection in HADHB gene for Trifunctional protein deficiency

PreTest Information

Clinical History of Patient who is going for HADHB Gene Trifunctional protein deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with HADHB Gene Trifunctional protein deficiency NGS Genetic DNA Test gene HADHB

Detail Description

HADHB Gene Trifunctional Protein Deficiency NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

What is HADHB gene trifunctional protein deficiency?

HADHB gene trifunctional protein deficiency is a rare inherited disorder that affects the way the body breaks down fats to produce energy. It is caused by mutations in the HADHB gene, which provides instructions for making an enzyme called the trifunctional protein. This enzyme is involved in the breakdown of long-chain fatty acids, which are a major source of energy for the body.

What are the symptoms of HADHB gene trifunctional protein deficiency?

The symptoms of HADHB gene trifunctional protein deficiency can vary from mild to severe and can include:

• Low blood sugar (hypoglycemia)
• Muscle weakness
• Poor feeding and failure to thrive in infants
• Enlarged liver (hepatomegaly)
• Enlarged heart (cardiomegaly)
• Abnormal muscle tone (hypotonia or hypertonia)
• Developmental delay or intellectual disability
• Seizures

How is HADHB gene trifunctional protein deficiency diagnosed?

HADHB gene trifunctional protein deficiency is diagnosed through a genetic test that looks for mutations in the HADHB gene. This test can be done using next-generation sequencing (NGS) technology, which allows for the rapid and accurate analysis of multiple genes at once.

What is the cost of the NGS genetic DNA test for HADHB gene trifunctional protein deficiency?

The cost of the NGS genetic DNA test for HADHB gene trifunctional protein deficiency at DNA Labs India is INR:20000.

Why choose DNA Labs India for genetic testing?

DNA Labs India is a leading provider of genetic testing services in India, offering a wide range of tests for inherited disorders. Our team of experienced genetic counselors and scientists use state-of-the-art technology to provide accurate and reliable results. We also offer affordable pricing and fast turnaround times, so you can get the answers you need quickly and without breaking the bank.