Short Description

NGS genetic DNA test detecets for variant and mutation detection in HSD17B4 gene for D-bifunctional protein deficiency

PreTest Information

Clinical History of Patient who is going for HSD17B4 Gene D-bifunctional protein deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with HSD17B4 Gene D-bifunctional protein deficiency NGS Genetic DNA Test gene HSD17B4

Detail Description

HSD17B4 Gene D-bifunctional protein deficiency NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

HSD17B4 Gene D-bifunctional protein deficiency is a rare genetic disorder that affects the breakdown of fats in the body. It is caused by mutations in the HSD17B4 gene, which provides instructions for making an enzyme called D-bifunctional protein. This enzyme is involved in the breakdown of certain fats in the body.

Symptoms

The symptoms of HSD17B4 Gene D-bifunctional protein deficiency can vary widely from person to person. Some people with the condition may have no symptoms at all, while others may have severe symptoms that can be life-threatening. Common symptoms of the condition include:

• Delayed development
• Low muscle tone
• Enlarged liver
• Seizures
• Decreased ability to control body movements
• Visual problems

Diagnosis

HSD17B4 Gene D-bifunctional protein deficiency is diagnosed through genetic testing. A small sample of blood or tissue is taken from the patient and analyzed in a laboratory. The test looks for mutations in the HSD17B4 gene that are known to cause the condition.

NGS Genetic DNA Test cost INR:20000

The cost of NGS Genetic DNA Test for HSD17B4 Gene D-bifunctional protein deficiency at DNA Labs India is INR:20000.

Conclusion

HSD17B4 Gene D-bifunctional protein deficiency is a rare genetic disorder that affects the breakdown of fats in the body. It is diagnosed through genetic testing, and the cost of NGS Genetic DNA Test for the condition at DNA Labs India is INR:20000. If you or a loved one are experiencing symptoms of the condition, it is important to speak with a healthcare provider for proper diagnosis and treatment.