Short Description

NGS genetic DNA test detecets for variant and mutation detection in LIAS gene for Pyruvate dehydrogenase lipoic acid synthetase deficiency

PreTest Information

Clinical History of Patient who is going for LIAS Gene Pyruvate dehydrogenase lipoic acid synthetase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Pyruvate dehydrogenase lipoic acid synthetase deficiency

Detail Description

LIAS Gene Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

LIAS gene pyruvate dehydrogenase lipoic acid synthetase deficiency is a rare genetic disorder that affects the function of enzymes involved in energy production. It is caused by mutations in the LIAS gene, which provides instructions for making an enzyme called lipoic acid synthetase. This enzyme is essential for the production of lipoic acid, which is a cofactor required for the function of several enzymes involved in energy production.

Symptoms of LIAS Gene Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency

The symptoms of LIAS gene pyruvate dehydrogenase lipoic acid synthetase deficiency can vary widely, depending on the severity of the condition and the age at which it appears. Some of the common symptoms include:

• Poor feeding and failure to thrive
• Developmental delays
• Low muscle tone (hypotonia)
• Difficulty breathing
• Seizures
• Abnormal movements
• Intellectual disability

Diagnosis of LIAS Gene Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency

LIAS gene pyruvate dehydrogenase lipoic acid synthetase deficiency is typically diagnosed through a combination of clinical evaluation, genetic testing, and biochemical testing. Genetic testing involves analyzing a person's DNA to look for mutations in the LIAS gene. Biochemical testing involves analyzing a person's blood or urine to look for abnormalities in the levels of lipoic acid or related compounds.

NGS Genetic DNA Test Cost INR:20000

The cost of NGS genetic DNA testing for LIAS gene pyruvate dehydrogenase lipoic acid synthetase deficiency in India is typically around INR 20000. This test involves sequencing a person's entire genome to look for mutations in the LIAS gene. NGS testing is a highly accurate and sensitive method of genetic testing that can detect even rare mutations.

Conclusion

LIAS gene pyruvate dehydrogenase lipoic acid synthetase deficiency is a rare genetic disorder that can cause significant health problems. If you or a loved one are experiencing symptoms of this condition, it is important to seek medical evaluation and genetic testing. NGS genetic DNA testing is a highly accurate and sensitive method of genetic testing that can help diagnose this condition and guide treatment decisions.

At DNA Labs India, we offer comprehensive genetic testing services, including NGS testing for LIAS gene pyruvate dehydrogenase lipoic acid synthetase deficiency. Contact us today to learn more about our services and to schedule a consultation.