Short Description

NGS genetic DNA test detecets for variant and mutation detection in ST6GAL2 gene for Beta-Galactosamide alpha-2,6-Sialyltransferase 2 deficiency

PreTest Information

Clinical History of Patient who is going for ST6GAL2 Gene Beta-Galactosamide alpha-2,6-Sialyltransferase 2 deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Beta-Galactosamide alpha-2,6-Sialyltransferase 2 deficiency

Detail Description

ST6GAL2 Gene Beta-Galactosamide alpha-2,6-Sialyltransferase 2 Deficiency: Symptoms, Diagnosis and NGS Genetic DNA Test Cost

ST6GAL2 gene beta-galactosamide alpha-2,6-sialyltransferase 2 deficiency is a rare genetic disorder that affects the body's ability to produce a specific enzyme. This enzyme is responsible for the production of a specific type of sugar molecule called sialic acid. Sialic acid is essential for many functions in the body, including the development of the nervous system and the immune system.

Symptoms of ST6GAL2 Gene Beta-Galactosamide alpha-2,6-Sialyltransferase 2 Deficiency

The symptoms of ST6GAL2 gene beta-galactosamide alpha-2,6-sialyltransferase 2 deficiency can vary from person to person. Some of the common symptoms include:

• Developmental delays
• Speech and language difficulties
• Motor coordination problems
• Weak muscle tone
• Intellectual disability
• Behavioral problems
• Seizures
• Abnormal eye movements

These symptoms typically appear in early childhood and can range from mild to severe.

Diagnosis of ST6GAL2 Gene Beta-Galactosamide alpha-2,6-Sialyltransferase 2 Deficiency

Diagnosing ST6GAL2 gene beta-galactosamide alpha-2,6-sialyltransferase 2 deficiency can be challenging, as the symptoms can be similar to those of other developmental disorders. A diagnosis is usually made through a combination of clinical evaluation, medical history, and genetic testing.

Genetic testing is the most reliable way to confirm a diagnosis of ST6GAL2 gene beta-galactosamide alpha-2,6-sialyltransferase 2 deficiency. Next-generation sequencing (NGS) genetic DNA testing can identify mutations in the ST6GAL2 gene that cause the deficiency. This type of testing can also identify carriers of the gene mutation, which can be useful for family planning.

NGS Genetic DNA Test Cost for ST6GAL2 Gene Beta-Galactosamide alpha-2,6-Sialyltransferase 2 Deficiency

The cost of NGS genetic DNA testing for ST6GAL2 gene beta-galactosamide alpha-2,6-sialyltransferase 2 deficiency can vary depending on the laboratory performing the test. In India, the cost of this test typically ranges from INR 20,000 to INR 30,000.

It is important to note that genetic testing may not be covered by insurance, so it is important to check with your provider before undergoing testing. Some laboratories may also offer financial assistance programs to help cover the cost of testing for those who cannot afford it.

Conclusion

ST6GAL2 gene beta-galactosamide alpha-2,6-sialyltransferase 2 deficiency is a rare genetic disorder that can have significant developmental and intellectual impacts on affected individuals. Early diagnosis through genetic testing can help with early intervention and management of symptoms. NGS genetic DNA testing for ST6GAL2 gene beta-galactosamide alpha-2,6-sialyltransferase 2 deficiency is available in India at a cost of INR 20,000 to INR 30,000, and may be covered by insurance or financial assistance programs.

It is important to work with a qualified healthcare professional to determine if genetic testing is appropriate for you or your loved one.

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 ST6GAL2 Gene Beta-Galactosamide alpha-2,6-Sialyltransferase 2 deficiency NGS Genetic DNA Test