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SUMF1 Gene Sulfatase deficiency NGS Genetic DNA Test Details
SUMF1 Gene Sulfatase Deficiency NGS Genetic DNA Test
Are you concerned about sulfatase deficiency and its symptoms? If yes, then you should consider getting an NGS genetic DNA test for SUMF1 gene sulfatase deficiency. This test is designed to detect gene mutations that cause this rare genetic disorder.
What is SUMF1 Gene Sulfatase Deficiency?
Sulfatase deficiency is a rare genetic disorder that affects the body's ability to break down certain molecules called sulfates. This is caused by mutations in the SUMF1 gene, which provides instructions for making an enzyme called sulfatase-modifying factor 1. This enzyme is responsible for modifying other enzymes called sulfatases, which are important for breaking down sulfates in the body.
When the SUMF1 gene is mutated, sulfatase-modifying factor 1 is not produced properly. This leads to a buildup of sulfates in the body, which can cause a range of symptoms.
Symptoms of SUMF1 Gene Sulfatase Deficiency
The symptoms of sulfatase deficiency can vary widely depending on the severity of the gene mutation. Some common symptoms include:
- Developmental delays
- Intellectual disability
- Seizures
- Eye abnormalities
- Joint stiffness
- Organ enlargement
If you or your child are experiencing any of these symptoms, it is important to talk to your doctor about getting tested for SUMF1 gene sulfatase deficiency.
Diagnosis of SUMF1 Gene Sulfatase Deficiency
Diagnosing sulfatase deficiency can be challenging, as the symptoms can be similar to other conditions. However, genetic testing can help confirm a diagnosis.
The NGS genetic DNA test for SUMF1 gene sulfatase deficiency is a highly accurate way to detect gene mutations. This test looks for changes in the DNA sequence of the SUMF1 gene, which can indicate the presence of sulfatase deficiency.
Cost of NGS Genetic DNA Test
The cost of the NGS genetic DNA test for SUMF1 gene sulfatase deficiency is INR 20,000. This test is available at DNA Labs India, a leading genetic testing laboratory in India.
This test is covered by some insurance plans, so it is important to check with your provider to see if you are eligible for coverage.
Conclusion
If you or your child are experiencing symptoms of sulfatase deficiency, it is important to talk to your doctor about getting tested for SUMF1 gene mutations. The NGS genetic DNA test is a highly accurate way to detect this rare genetic disorder, and it is available at DNA Labs India for INR 20,000. Don't wait – get tested today to get the answers you need.
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 SUMF1 Gene Sulfatase deficiency NGS Genetic DNA Test
