Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC35C1 gene for Glycosylation disorde type 2C

PreTest Information

Clinical History of Patient who is going for SLC35C1 Gene Glycosylation disorde type 2C NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SLC35C1 Gene Glycosylation disorde type 2C

Detail Description

SLC35C1 Gene Glycosylation Disorder Type 2C NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

SLC35C1 gene glycosylation disorder type 2C is a rare genetic disorder that affects the body's ability to produce glycosylation, a process that adds sugar molecules to proteins. This disorder is caused by mutations in the SLC35C1 gene, which provides instructions for making a protein that is involved in glycosylation. Individuals with SLC35C1 gene glycosylation disorder type 2C may experience a range of symptoms, including developmental delays, intellectual disability, seizures, and abnormal facial features.

Symptoms of SLC35C1 Gene Glycosylation Disorder Type 2C

The symptoms of SLC35C1 gene glycosylation disorder type 2C can vary widely from person to person, but may include:

• Developmental delays
• Intellectual disability
• Seizures
• Abnormal facial features, such as a small head size, a small jaw, and a flat nose bridge
• Poor muscle tone and coordination
• Difficulty with feeding and swallowing
• Abnormal eye movements

Diagnosis of SLC35C1 Gene Glycosylation Disorder Type 2C

SLC35C1 gene glycosylation disorder type 2C is diagnosed using a combination of clinical evaluation, genetic testing, and imaging studies. A doctor may perform a physical exam to look for signs of the disorder, and may also order blood or urine tests to check for abnormal levels of certain substances. Genetic testing, such as next-generation sequencing (NGS), can identify mutations in the SLC35C1 gene that are associated with the disorder. Imaging studies, such as magnetic resonance imaging (MRI), may be used to evaluate the brain and other organs for abnormalities.

NGS Genetic DNA Test Cost for SLC35C1 Gene Glycosylation Disorder Type 2C

The cost of next-generation sequencing (NGS) genetic DNA testing for SLC35C1 gene glycosylation disorder type 2C in India is approximately INR 20,000. This cost may vary depending on the testing facility and other factors. It is important to consult with a healthcare provider or genetic counselor to discuss the benefits, risks, and costs of genetic testing before undergoing any testing.

Conclusion

SLC35C1 gene glycosylation disorder type 2C is a rare genetic disorder that can cause a range of symptoms, including developmental delays, intellectual disability, and seizures. Diagnosis of the disorder typically involves a combination of clinical evaluation, genetic testing, and imaging studies. Next-generation sequencing (NGS) genetic DNA testing for SLC35C1 gene glycosylation disorder type 2C is available in India at a cost of approximately INR 20,000. It is important to consult with a healthcare provider or genetic counselor to discuss the benefits, risks, and costs of genetic testing before undergoing any testing.

At DNA Labs India, we provide a range of genetic testing services, including NGS genetic DNA testing for SLC35C1 gene glycosylation disorder type 2C. Our team of experienced healthcare professionals and genetic counselors can help you understand the testing process and provide guidance on the next steps. Contact us today to learn more.

Disclaimer: This blog is for informational purposes only and is not intended to provide medical advice. Consult with a healthcare provider or genetic counselor for guidance on genetic testing and any related medical concerns.

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 SLC35C1 Gene Glycosylation disorde type 2C NGS Genetic DNA Test