Short Description

NGS genetic DNA test detecets for variant and mutation detection in MAGEL2 gene for Schaaf-Yang syndrome

PreTest Information

Clinical History of Patient who is going for MAGEL2 Gene Schaaf-Yang syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MAGEL2 Gene Schaaf-Yang syndrome NGS Genetic DNA Test gene MAGEL2

Detail Description

MAGEL2 Gene Schaaf-Yang Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Schaaf-Yang syndrome, also known as MAGEL2-related disorders, is a rare genetic condition that affects the development of the brain and causes intellectual disability, speech and language difficulties, and behavioral problems. It is caused by mutations in the MAGEL2 gene, which provides instructions for making a protein that is important for brain development.

If you suspect that you or someone you love may have Schaaf-Yang syndrome, getting a genetic DNA test is the first step towards a diagnosis. DNA Labs India offers a MAGEL2 gene NGS genetic DNA test at a cost of INR 20000.

Symptoms of Schaaf-Yang Syndrome

The symptoms of Schaaf-Yang syndrome can vary widely from person to person, but some common signs include:

• Intellectual disability
• Speech and language difficulties
• Behavioral problems
• Developmental delay
• Distinct facial features, including a small head circumference
• Low muscle tone

Many people with Schaaf-Yang syndrome also have a strong interest in music and may have perfect pitch.

Diagnosing Schaaf-Yang Syndrome

The diagnosis of Schaaf-Yang syndrome is usually made through genetic testing. A MAGEL2 gene NGS genetic DNA test can identify mutations in the MAGEL2 gene that are associated with the condition. If a mutation is found, a diagnosis can be made.

It is important to note that not all people with Schaaf-Yang syndrome will have a mutation in the MAGEL2 gene, so it is possible to have the condition without a positive genetic test result.

The Importance of Early Diagnosis

Early diagnosis of Schaaf-Yang syndrome is important for several reasons. First, it can help families understand the cause of their loved one's symptoms and provide them with important information about the condition. Second, it can help healthcare providers provide appropriate care and support to individuals with the condition. Finally, it can help families connect with other families who are going through similar experiences.

Conclusion

If you suspect that you or someone you love may have Schaaf-Yang syndrome, getting a genetic DNA test is an important first step towards a diagnosis. The MAGEL2 gene NGS genetic DNA test offered by DNA Labs India can identify mutations in the MAGEL2 gene that are associated with the condition at a cost of INR 20000. Early diagnosis of Schaaf-Yang syndrome can help families get the support they need and ensure that individuals with the condition receive appropriate care.

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 MAGEL2 Gene Schaaf-Yang syndrome NGS Genetic DNA Test