Short Description

NGS genetic DNA test detecets for variant and mutation detection in HADH gene for 3-hydroxyacyl-CoA dehydrogenase deficiency

PreTest Information

Clinical History of Patient who is going for HADH Gene 3-hydroxyacyl-CoA dehydrogenase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with 3-hydroxyacyl-CoA dehydrogenase deficiency

Detail Description

HADH Gene Deficiency: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

3-hydroxyacyl-CoA dehydrogenase (HADH) deficiency is a rare genetic disorder that affects the body's ability to break down certain fats and convert them into energy. This condition is caused by mutations in the HADH gene, which provides instructions for making the HADH enzyme. As a result, individuals with HADH gene deficiency may experience a range of symptoms, from mild to severe.

Symptoms of HADH Gene Deficiency

The symptoms of HADH gene deficiency can vary widely depending on the severity of the condition. Some individuals may have no symptoms at all, while others may experience:

• Low blood sugar (hypoglycemia)
• High levels of certain fats in the blood (hyperlipidemia)
• Muscle weakness or pain
• Difficulty breathing
• Seizures
• Developmental delays
• Intellectual disability
• Heart problems

These symptoms can be triggered by fasting, illness, or stress, and may become more severe over time.

Diagnosis of HADH Gene Deficiency

If HADH gene deficiency is suspected, a doctor may order a genetic test to confirm the diagnosis. This test involves analyzing a sample of the patient's DNA to look for mutations in the HADH gene. Other tests may also be used to evaluate the patient's liver function, blood sugar levels, and lipid profile.

NGS Genetic DNA Test Cost in India

The cost of a Next-Generation Sequencing (NGS) genetic DNA test for HADH gene deficiency in India is approximately INR 20,000. This test uses advanced sequencing technology to analyze the patient's DNA for mutations in the HADH gene and other related genes. It can provide a comprehensive analysis of the patient's genetic profile and help doctors make an accurate diagnosis.

Conclusion

HADH gene deficiency is a rare genetic disorder that can cause a range of symptoms, from mild to severe. If you or a loved one is experiencing symptoms of HADH gene deficiency, it is important to talk to a doctor and consider genetic testing. With the help of NGS genetic DNA testing, doctors can make an accurate diagnosis and develop a personalized treatment plan that addresses the patient's unique needs.

At DNA Labs India, we offer a range of genetic testing services, including NGS genetic DNA testing for HADH gene deficiency. Contact us today to learn more about our services and how we can help you.

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 HADH Gene 3-hydroxyacyl-CoA dehydrogenase deficiency NGS Genetic DNA Test