Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC17A5 gene for Sialuria, finish type

PreTest Information

Clinical History of Patient who is going for SLC17A5 Gene Sialuria, finish type NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SLC17A5 Gene Sialuria, finish type

Detail Description

SLC17A5 Gene Sialuria: Symptoms, Diagnosis and Genetic Testing

SLC17A5 gene sialuria is a rare genetic disorder that affects the metabolism of sialic acid, a sugar molecule found in the body. This condition is caused by mutations in the SLC17A5 gene, which provides instructions for making a protein that transports sialic acid out of cells. When this protein is not working properly, sialic acid accumulates in the body, leading to a range of symptoms.

Symptoms of SLC17A5 Gene Sialuria

The symptoms of SLC17A5 gene sialuria can vary widely, even among members of the same family. Some of the most common symptoms include:

• Developmental delay or intellectual disability
• Seizures
• Muscle weakness or stiffness
• Abnormal movements
• Enlarged liver and spleen
• Joint pain or arthritis

These symptoms can begin at any age, but they often appear in early childhood.

Diagnosis of SLC17A5 Gene Sialuria

SLC17A5 gene sialuria is diagnosed through a combination of clinical evaluation and genetic testing. Doctors may perform a physical exam, review the patient's medical history, and order a variety of tests to rule out other possible causes of the symptoms.

The definitive diagnosis is made through genetic testing, which looks for mutations in the SLC17A5 gene. This can be done using a variety of techniques, but next-generation sequencing (NGS) is the most common method.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA testing for SLC17A5 gene sialuria varies depending on the provider. At DNA Labs India, the cost of this test is INR 20,000.

This test uses advanced sequencing technology to analyze the patient's DNA and identify mutations in the SLC17A5 gene. It is a highly accurate and reliable method of diagnosis, and it can be used to confirm a suspected diagnosis or identify carriers of the mutation.

Conclusion

SLC17A5 gene sialuria is a rare genetic disorder that can cause a range of symptoms, including developmental delay, seizures, and joint pain. Diagnosis of this condition is made through a combination of clinical evaluation and genetic testing, with NGS being the most common method. If you suspect that you or a loved one may have SLC17A5 gene sialuria, contact a genetic counselor or healthcare provider for more information.

For more information about genetic testing, including NGS genetic DNA testing, contact DNA Labs India today.

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 SLC17A5 Gene Sialuria, finish type NGS Genetic DNA Test