Short Description

NGS genetic DNA test detecets for variant and mutation detection in PSAP gene for Metachromatic leukodystrophy due to Saposin B deficiency

PreTest Information

Clinical History of Patient who is going for PSAP Gene Metachromatic leukodystrophy due to Saposin B deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PSAP Gene Metachromatic leukodystrophy due to Saposin B deficiency

Detail Description

PSAP Gene Metachromatic leukodystrophy due to Saposin B deficiency NGS Genetic DNA Test

Metachromatic leukodystrophy (MLD) is a rare genetic disorder that affects the nervous system. It is caused by a deficiency in the enzyme arylsulfatase A (ASA), which leads to the accumulation of sulfatides in the brain and other organs. The PSAP gene is responsible for the production of the protein saposin B, which is necessary for ASA to function properly. Mutations in the PSAP gene can lead to MLD due to saposin B deficiency.

Symptoms of MLD due to saposin B deficiency

The symptoms of MLD due to saposin B deficiency can vary depending on the age of onset and the severity of the condition. In general, symptoms may include:

• Developmental delay
• Loss of motor skills
• Seizures
• Behavioral problems
• Dementia

Diagnosis of MLD due to saposin B deficiency

MLD due to saposin B deficiency can be diagnosed through genetic testing. Next-generation sequencing (NGS) technology can be used to analyze the PSAP gene and identify any mutations that may be causing the condition. This type of testing is highly accurate and can provide a definitive diagnosis.

Cost of NGS Genetic DNA Test

The cost of NGS Genetic DNA Test for MLD due to saposin B deficiency at DNA Labs India is INR 20,000.

Conclusion

If you or someone you know is experiencing symptoms of MLD due to saposin B deficiency, it is important to seek medical attention and consider genetic testing. NGS Genetic DNA Test can provide a definitive diagnosis and help guide treatment options. DNA Labs India offers this test at an affordable cost of 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 PSAP Gene Metachromatic leukodystrophy due to Saposin B deficiency NGS Genetic DNA Test