Short Description

NGS genetic DNA test detecets for variant and mutation detection in SRD5A3 gene for Congenital disorder of glycosylation, type Iq

PreTest Information

Clinical History of Patient who is going for SRD5A3 Gene Congenital disorder of glycosylation, type Iq NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Congenital disorder of glycosylation, type Iq

Detail Description

SRD5A3 Gene Congenital Disorder of Glycosylation, Type Iq: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

DNA Labs India is a leading provider of advanced genetic testing services, offering a range of tests to diagnose and manage genetic disorders. One of the tests offered by the company is the NGS Genetic DNA Test for SRD5A3 Gene Congenital Disorder of Glycosylation, Type Iq. In this blog, we will discuss the symptoms, diagnosis, and cost of this test.

What is SRD5A3 Gene Congenital Disorder of Glycosylation, Type Iq?

SRD5A3 gene congenital disorder of glycosylation, type Iq is a rare genetic disorder that affects the production of glycoproteins in the body. Glycoproteins are proteins that have sugar molecules attached to them, and they play a crucial role in many biological processes. In individuals with this disorder, the body is unable to produce functional glycoproteins, leading to a range of symptoms.

Symptoms of SRD5A3 Gene Congenital Disorder of Glycosylation, Type Iq

The symptoms of SRD5A3 gene congenital disorder of glycosylation, type Iq can vary widely from person to person. Some of the common symptoms include:

• Developmental delay
• Intellectual disability
• Seizures
• Weak muscle tone
• Vision problems
• Hearing loss
• Abnormal facial features
• Abnormalities in the skeleton
• Recurrent infections

The severity of the symptoms can also vary widely, with some individuals experiencing mild symptoms and others experiencing severe symptoms.

Diagnosis of SRD5A3 Gene Congenital Disorder of Glycosylation, Type Iq

The diagnosis of SRD5A3 gene congenital disorder of glycosylation, type Iq is typically made through genetic testing. This involves analyzing a sample of the individual's DNA to look for mutations in the SRD5A3 gene. If a mutation is identified, the individual is diagnosed with the disorder.

The NGS Genetic DNA Test for SRD5A3 Gene Congenital Disorder of Glycosylation, Type Iq offered by DNA Labs India uses next-generation sequencing technology to analyze the individual's DNA. This test is highly accurate and can detect even small mutations in the SRD5A3 gene. The test is non-invasive and involves collecting a saliva or blood sample from the individual.

NGS Genetic DNA Test Cost

The cost of the NGS Genetic DNA Test for SRD5A3 Gene Congenital Disorder of Glycosylation, Type Iq offered by DNA Labs India is INR 20,000. This test is not covered by insurance, and the cost must be paid out of pocket. However, DNA Labs India offers flexible payment options to make the test more affordable for individuals and families.

Conclusion

SRD5A3 gene congenital disorder of glycosylation, type Iq is a rare genetic disorder that can cause a range of symptoms. The NGS Genetic DNA Test offered by DNA Labs India is a highly accurate and non-invasive way to diagnose the disorder. If you or a loved one is experiencing symptoms of SRD5A3 gene congenital disorder of glycosylation, type Iq, contact DNA Labs India to learn more about this test.

Remember, early detection and diagnosis of genetic disorders can lead to better outcomes and improved quality of life.

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 SRD5A3 Gene Congenital disorder of glycosylation, type Iq NGS Genetic DNA Test