Short Description

NGS genetic DNA test detecets for variant and mutation detection in FUCA1 gene for Fucosidosis

PreTest Information

Clinical History of Patient who is going for FUCA1 Gene Fucosidosis NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with FUCA1 Gene Fucosidosis

Detail Description

FUCA1 Gene Fucosidosis NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

Genetic diseases are caused by abnormalities in an individual's DNA. One such rare genetic disorder is Fucosidosis, caused by the deficiency of an enzyme called Alpha-L-fucosidase. The FUCA1 gene, responsible for producing this enzyme, is mutated in individuals with Fucosidosis.

Symptoms of Fucosidosis

The symptoms of Fucosidosis vary in severity and can manifest in different ways. The disease is characterized by the accumulation of fucose-containing substances in different organs of the body, leading to their dysfunction.

The common symptoms of Fucosidosis include:

• Developmental delay and intellectual disability
• Abnormalities in the skeletal system
• Enlargement of the liver and spleen
• Coarse facial features
• Recurrent infections
• Seizures

Diagnosis of Fucosidosis

Fucosidosis is a rare disorder, and its diagnosis can be challenging. Clinical symptoms and physical examination can provide some clues, but a definitive diagnosis requires genetic testing.

The most common genetic test used for the diagnosis of Fucosidosis is Next-Generation Sequencing (NGS). NGS is a high-throughput DNA sequencing technology that can analyze multiple genes simultaneously. It can detect mutations in the FUCA1 gene responsible for Fucosidosis.

The genetic testing process involves collecting a blood sample from the patient, which is then sent to a laboratory for analysis. The laboratory technicians extract DNA from the blood sample and use NGS to sequence the FUCA1 gene. The results of the test can confirm or rule out the presence of Fucosidosis.

Cost of Fucosidosis NGS Genetic DNA Test

The cost of the Fucosidosis NGS Genetic DNA Test can vary depending on several factors, such as the location of the laboratory, the complexity of the test, and the inclusion of genetic counseling services.

In India, the cost of the Fucosidosis NGS Genetic DNA Test is around INR 20,000. However, the cost can be higher if additional services are required.

Conclusion

Fucosidosis is a rare genetic disorder caused by mutations in the FUCA1 gene. The disease can cause a range of symptoms, including developmental delay, skeletal abnormalities, and enlargement of the liver and spleen. Genetic testing, specifically NGS, is the most reliable method of diagnosis. The cost of the Fucosidosis NGS Genetic DNA Test in India is around INR 20,000, making it an affordable option for individuals who suspect they may have the disease.

It is essential to seek medical advice if you or someone you know is experiencing symptoms of Fucosidosis. Early diagnosis and intervention can improve the quality of life of individuals with the disease.

At DNA Labs India, we provide reliable and accurate genetic testing services for Fucosidosis and other rare genetic disorders. Our team of experienced professionals uses state-of-the-art technology to deliver timely and accurate results. Contact us to know more about our services.

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 FUCA1 Gene Fucosidosis NGS Genetic DNA Test