Short Description

NGS genetic DNA test detecets for variant and mutation detection in RAB27A gene for Griscelli syndrome type 2

PreTest Information

Clinical History of Patient who is going for RAB27A Gene Griscelli syndrome type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with RAB27A Gene Griscelli syndrome type 2

Detail Description

RAB27A Gene Griscelli Syndrome Type 2 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Griscelli syndrome type 2 is a rare genetic disorder that affects the skin, hair, and immune system. It is caused by mutations in the RAB27A gene, which provides instructions for making a protein that is essential for the normal function of melanocytes, the cells that produce pigment in the skin and hair.

Griscelli syndrome type 2 is also known as silvery hair syndrome, as one of the most noticeable symptoms is silver or gray hair that is thicker and coarser than normal. Other symptoms of the condition include:

• Light skin and eye color
• Delayed motor and cognitive development
• Immunodeficiency, making individuals more susceptible to infections

The diagnosis of Griscelli syndrome type 2 can be confirmed through genetic testing. Next-generation sequencing (NGS) is a powerful tool that can identify mutations in the RAB27A gene quickly and accurately. NGS involves sequencing the entire gene, allowing for the detection of both known and novel mutations.

DNA Labs India offers an NGS genetic DNA test for Griscelli syndrome type 2 that costs INR 20,000. The test is performed using state-of-the-art technology and is carried out by a team of experienced geneticists and technicians. Results are typically available within 2-3 weeks.

If you suspect that you or a loved one may have Griscelli syndrome type 2, it is important to seek medical attention right away. Early diagnosis and treatment can help to manage symptoms and prevent complications.

At DNA Labs India, we are committed to providing high-quality genetic testing services that are both accurate and affordable. Contact us today to learn more about our NGS genetic DNA test for Griscelli syndrome type 2.

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 RAB27A Gene Griscelli syndrome type 2 NGS Genetic DNA Test