Short Description

NGS genetic DNA test detecets for variant and mutation detection in CTSA gene for Galactosialidosis

PreTest Information

Clinical History of Patient who is going for CTSA Gene Galactosialidosis NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Galactosialidosis

Detail Description

CTSA Gene Galactosialidosis NGS Genetic DNA Test

Galactosialidosis is a rare inherited disorder that affects the metabolism of glycoproteins and glycolipids. It is caused by mutations in the CTSA gene that provides instructions for making the protective enzyme called cathepsin A. Galactosialidosis is classified into three types, based on the severity of symptoms:

• Type 1: The early infantile form, which is the most severe type and can cause death within the first few years of life.
• Type 2: The late infantile form, which can cause developmental delay and other symptoms in infancy and childhood.
• Type 3: The juvenile/adult form, which can cause symptoms to appear in adolescence or adulthood.

Symptoms of Galactosialidosis

The symptoms of galactosialidosis can vary widely depending on the type and severity of the condition. Some common symptoms include:

• Developmental delays and intellectual disability
• Seizures
• Muscle weakness and wasting
• Abnormal facial features
• Enlarged liver and spleen
• Bone abnormalities
• Respiratory problems
• Progressive neurologic deterioration

Diagnosis of Galactosialidosis

Galactosialidosis is diagnosed through genetic testing, which can identify mutations in the CTSA gene. Next-generation sequencing (NGS) is a powerful tool for genetic testing, as it can quickly and accurately analyze large amounts of DNA. NGS can detect single nucleotide variants (SNVs), small insertions and deletions (indels), copy number variations (CNVs), and structural variants (SVs).

CTSA Gene Galactosialidosis NGS Genetic DNA Test Cost

The cost of the CTSA gene galactosialidosis NGS genetic DNA test in India is approximately INR 20,000. However, the cost can vary depending on the testing laboratory and any additional services that may be required.

Conclusion

Galactosialidosis is a rare genetic disorder that can cause a wide range of symptoms. Genetic testing, such as the CTSA gene galactosialidosis NGS genetic DNA test, can provide an accurate diagnosis and help guide treatment decisions. If you or a loved one is experiencing symptoms of galactosialidosis, speak to a healthcare provider about genetic testing options.