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Accurate Test Results for HSD17B4 Gene D-bifunctional protein deficiency NGS Genetic DNA Test
HSD17B4 Gene D-bifunctional protein deficiency NGS Genetic DNA Test Cost 20000 Rs
HSD17B4 Gene D-bifunctional protein deficiency NGS Genetic DNA Test Details
HSD17B4 Gene D-bifunctional protein deficiency: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India
D-bifunctional protein deficiency is a rare genetic disorder that affects the breakdown of fatty acids in the body. The HSD17B4 gene provides instructions for making an enzyme that is involved in this process. Mutations in this gene can lead to a deficiency of the enzyme and cause a range of symptoms.
Symptoms of HSD17B4 Gene D-bifunctional protein deficiency
The symptoms of D-bifunctional protein deficiency can vary widely, depending on the severity of the condition and the age of onset. Some common symptoms include:
- Poor muscle tone
- Seizures
- Delayed development
- Liver dysfunction
- Visual impairment
Some individuals with D-bifunctional protein deficiency may also experience episodes of metabolic crisis, which can cause vomiting, dehydration, and low blood sugar.
Diagnosis of HSD17B4 Gene D-bifunctional protein deficiency
D-bifunctional protein deficiency can be diagnosed through genetic testing. Next-generation sequencing (NGS) technology is used to analyze the HSD17B4 gene and identify any mutations that may be present. This type of testing can provide a more comprehensive view of an individual's genetic makeup and can be more accurate than traditional genetic testing methods.
In addition to genetic testing, a diagnosis of D-bifunctional protein deficiency may be confirmed through other tests, such as blood and urine tests, imaging studies, and liver function tests.
NGS Genetic DNA Test Cost in India
The cost of NGS genetic DNA testing for HSD17B4 gene D-bifunctional protein deficiency in India typically ranges from INR 15,000 to INR 25,000. The exact cost may vary depending on the specific testing facility and the extent of the testing required.
Conclusion
D-bifunctional protein deficiency is a rare genetic disorder that can cause a range of symptoms, including poor muscle tone, seizures, delayed development, and liver dysfunction. Genetic testing using NGS technology can provide an accurate diagnosis and help individuals and their families better understand their condition. The cost of this testing in India is typically around INR 20,000.
If you suspect that you or a loved one may have D-bifunctional protein deficiency, it is important to speak with a healthcare provider who can provide a proper diagnosis and recommend appropriate treatment options.
At DNA Labs India, we offer a range of genetic testing services, including NGS genetic DNA testing for D-bifunctional protein deficiency. Our team of experienced genetic counselors and scientists can help you better understand your genetic makeup and make informed decisions about your health.
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 HSD17B4 Gene D-bifunctional protein deficiency NGS Genetic DNA Test
