Short Description

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

PreTest Information

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

Detail Description

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

HADHA gene trifunctional protein deficiency is a rare genetic disorder that affects the ability of the body to break down fats and produce energy. This disorder is caused by mutations in the HADHA gene, which provides instructions for making an enzyme called trifunctional protein. This enzyme plays a crucial role in the breakdown of fats and the production of energy in the body.

NGS genetic DNA test is a method of DNA sequencing that can identify mutations in the HADHA gene. This test can help diagnose HADHA gene trifunctional protein deficiency and other genetic disorders.

Symptoms of HADHA Gene Trifunctional Protein Deficiency

The symptoms of HADHA gene trifunctional protein deficiency can vary widely depending on the severity of the disorder. Some of the common symptoms include:

• Low blood sugar levels
• Muscle weakness
• Enlarged liver
• Enlarged heart
• Abnormal muscle tone
• Developmental delays
• Seizures

If you or your child is experiencing any of these symptoms, it is important to consult a genetic counselor or medical professional to determine if genetic testing is necessary.

Diagnosis of HADHA Gene Trifunctional Protein Deficiency

HADHA gene trifunctional protein deficiency can be diagnosed through genetic testing. NGS genetic DNA test can identify mutations in the HADHA gene that can cause this disorder. This test can be performed on a blood sample or a sample of saliva. The test is painless and non-invasive.

DNA Labs India - NGS Genetic DNA Test Cost INR:20000

The cost of NGS genetic DNA test for HADHA gene trifunctional protein deficiency at DNA Labs India is INR:20000. This cost includes the genetic counseling and interpretation of the results by our team of experts.

Conclusion

HADHA gene trifunctional protein deficiency is a rare genetic disorder that can cause a range of symptoms. NGS genetic DNA test can help diagnose this disorder and other genetic disorders. The cost of NGS genetic DNA test for HADHA gene trifunctional protein deficiency at DNA Labs India is INR:20000. If you or your child is experiencing any symptoms of this disorder, it is important to consult a genetic counselor or medical professional.

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 HADHA Gene Trifunctional protein deficiency NGS Genetic DNA Test