Short Description

NGS genetic DNA test detecets for variant and mutation detection in TPK1 gene for Thiamine metabolism dysfunction syndrome type 5

PreTest Information

Clinical History of Patient who is going for TPK1 Gene Thiamine metabolism dysfunction syndrome type 5 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Thiamine metabolism dysfunction syndrome type 5

Detail Description

TPK1 Gene Thiamine Metabolism Dysfunction Syndrome Type 5 NGS Genetic DNA Test

Thiamine metabolism dysfunction syndrome type 5 (THMD5) is a rare genetic disorder that affects the way the body processes thiamine or vitamin B1. The TPK1 gene is responsible for producing an enzyme that is essential in the conversion of thiamine into its active form, which is necessary for energy production in the body. THMD5 is caused by mutations in the TPK1 gene, which results in a deficiency of this enzyme and, in turn, leads to a range of symptoms.

Symptoms of THMD5

The symptoms of THMD5 can vary in severity and may include:

• Developmental delay or intellectual disability
• Weakness and muscle wasting
• Difficulty swallowing
• Heart problems
• Seizures
• Respiratory failure

Symptoms may be present at birth or may develop later in life.

Diagnosis of THMD5

Diagnosis of THMD5 is typically done through genetic testing. The TPK1 gene can be analyzed using next-generation sequencing (NGS) technology, which can identify mutations in the gene that are responsible for the disorder. The test may be recommended if a person has symptoms of THMD5 or if there is a family history of the disorder.

Cost of THMD5 NGS Genetic DNA Test in India

The cost of THMD5 NGS Genetic DNA Test in India is approximately INR 20,000. However, the cost may vary depending on the laboratory and location.

Conclusion

Thiamine metabolism dysfunction syndrome type 5 (THMD5) is a rare genetic disorder that can cause a range of symptoms. Diagnosis of THMD5 is typically done through genetic testing, such as the NGS Genetic DNA Test. The cost of the test in India is approximately INR 20,000. If you or a loved one has symptoms of THMD5 or a family history of the disorder, talk to a healthcare provider about genetic testing.