Short Description

NGS genetic DNA test detecets for variant and mutation detection in TALDO1 gene for Transaldolase deficiency

PreTest Information

Clinical History of Patient who is going for TALDO1 Gene Transaldolase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Transaldolase deficiency

Detail Description

TALDO1 Gene Transaldolase Deficiency NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

Transaldolase deficiency is a rare genetic disorder that affects the TALDO1 gene. This condition is inherited in an autosomal recessive pattern, which means that an individual must inherit two copies of the mutated gene to develop the disorder.

Symptoms of transaldolase deficiency can vary widely depending on the severity of the condition. Some common symptoms include:

• Jaundice
• Enlarged liver and spleen
• Low blood sugar (hypoglycemia)
• Developmental delays and intellectual disability
• Recurrent infections

Diagnosis of transaldolase deficiency typically involves genetic testing. A next-generation sequencing (NGS) genetic DNA test is used to identify mutations in the TALDO1 gene. This test can be performed on a blood sample or a sample of cells from the inside of the cheek.

The cost of a TALDO1 gene transaldolase deficiency NGS genetic DNA test in India is approximately INR 20,000. This cost may vary depending on the specific laboratory or testing facility used.

It is important for individuals with symptoms of transaldolase deficiency to seek medical attention and undergo genetic testing as soon as possible. Early diagnosis and treatment can help to manage symptoms and improve outcomes for individuals with this condition.

If you or a loved one are experiencing symptoms of transaldolase deficiency, speak with a medical professional to discuss the possibility of genetic testing and appropriate treatment options.

Conclusion

Transaldolase deficiency is a rare genetic disorder that can cause a range of symptoms, including jaundice, low blood sugar, and developmental delays. Diagnosis typically involves genetic testing, and the cost of a TALDO1 gene transaldolase deficiency NGS genetic DNA test in India is around INR 20,000. If you or a loved one are experiencing symptoms of transaldolase deficiency, seek medical attention and discuss the possibility of genetic testing with a healthcare professional.