Short Description

NGS genetic DNA test detecets for variant and mutation detection in LAMA1 gene for Poretti-Boltshauser syndrome

PreTest Information

Clinical History of Patient who is going for LAMA1 Gene Poretti-Boltshauser syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with LAMA1 Gene Poretti-Boltshauser syndrome NGS Genetic DNA Test gene LAMA1

Detail Description

LAMA1 Gene and Poretti-Boltshauser Syndrome: Understanding the Symptoms, Diagnosis, and Genetic Testing Cost

Poretti-Boltshauser syndrome, also known as cerebellar hypoplasia with oligophrenia, is a rare genetic disorder that affects brain development. It is caused by mutations in the LAMA1 gene, which is responsible for encoding a protein that helps in the formation of the brain's cerebellum. The cerebellum is the part of the brain that controls movement, balance, and coordination.

Individuals with Poretti-Boltshauser syndrome typically have cerebellar hypoplasia, which means that their cerebellum is underdeveloped. This can lead to a range of symptoms, including:

• Delayed motor development
• Ataxia (uncoordinated movement)
• Hypotonia (low muscle tone)
• Intellectual disability
• Epilepsy

Diagnosis of Poretti-Boltshauser syndrome typically involves a combination of clinical examination, brain imaging, and genetic testing. Magnetic resonance imaging (MRI) is often used to evaluate the structure of the brain and identify cerebellar hypoplasia. Genetic testing can confirm the presence of mutations in the LAMA1 gene.

NGS (Next-Generation Sequencing) is a commonly used genetic testing method for identifying mutations in the LAMA1 gene. It involves sequencing the entire gene to identify any changes or mutations that may be present. The cost of NGS genetic testing for Poretti-Boltshauser syndrome in India is typically around INR 20,000.

Early diagnosis of Poretti-Boltshauser syndrome is important as it can help in providing appropriate management and support to individuals and their families. Treatment for Poretti-Boltshauser syndrome is typically symptomatic and may involve physical therapy, occupational therapy, and medication to manage seizures.

In conclusion, Poretti-Boltshauser syndrome is a rare genetic disorder caused by mutations in the LAMA1 gene. It can lead to a range of symptoms, including delayed motor development, ataxia, hypotonia, intellectual disability, and epilepsy. Genetic testing using NGS can help in confirming the presence of mutations in the LAMA1 gene. The cost of NGS genetic testing for Poretti-Boltshauser syndrome in India is typically around INR 20,000.

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 LAMA1 Gene Poretti-Boltshauser syndrome NGS Genetic DNA Test