Short Description

NGS genetic DNA test detecets for variant and mutation detection in LIPT1 gene for Leigh syndrome due to pyruvate and alpha-ketoglutarate dehydrogenase deficiencies, LIPT1 related

PreTest Information

Clinical History of Patient who is going for LIPT1 Gene Leigh syndrome due to pyruvate and alpha-ketoglutarate dehydrogenase deficiencies, LIPT1 related NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with LIPT1 Gene Leigh syndrome due to pyruvate and alpha-ketoglutarate dehydrogenase deficiencies, LIPT1 related

Detail Description

LIPT1 Gene Leigh Syndrome: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Leigh syndrome is a rare and progressive genetic disorder that affects the central nervous system. It is caused by mutations in genes that are responsible for the production of energy in the body's cells. LIPT1 gene Leigh syndrome is a subtype of the disorder that is caused by deficiencies in pyruvate and alpha-ketoglutarate dehydrogenase enzymes.

Symptoms of LIPT1 Gene Leigh Syndrome

The symptoms of LIPT1 gene Leigh syndrome can vary widely from person to person. Some of the most common symptoms include:

• Developmental delays
• Weakness and muscle stiffness
• Poor coordination and balance
• Seizures
• Vision and hearing loss
• Respiratory problems

These symptoms usually appear in the first year of life and progressively worsen over time. Children with LIPT1 gene Leigh syndrome often have a shortened lifespan and may not survive beyond their teenage years.

Diagnosis of LIPT1 Gene Leigh Syndrome

Diagnosing LIPT1 gene Leigh syndrome can be challenging because the symptoms are similar to those of other neurological disorders. However, there are several tests that can help to confirm a diagnosis:

• Genetic testing: A DNA test can identify mutations in the LIPT1 gene that are associated with Leigh syndrome.
• Blood and urine tests: These tests can measure the levels of pyruvate and alpha-ketoglutarate dehydrogenase enzymes in the body.
• MRI: A magnetic resonance imaging (MRI) scan can show abnormalities in the brain that are characteristic of Leigh syndrome.

It is important to diagnose LIPT1 gene Leigh syndrome as early as possible so that treatment can be started to slow down the progression of the disorder.

NGS Genetic DNA Test Cost for LIPT1 Gene Leigh Syndrome

Next-generation sequencing (NGS) is a powerful tool that can be used to identify mutations in the LIPT1 gene that are associated with Leigh syndrome. The cost of an NGS genetic DNA test for LIPT1 gene Leigh syndrome in India is around INR 20,000.

This test can be ordered by a doctor or genetic counselor who specializes in genetic disorders. The test involves taking a small sample of blood or saliva and sending it to a laboratory for analysis. The results of the test can take several weeks to come back.

Conclusion

LIPT1 gene Leigh syndrome is a rare and devastating genetic disorder that affects the central nervous system. Early diagnosis and treatment can help to slow down the progression of the disorder and improve the quality of life for affected individuals. If you suspect that you or your child may have LIPT1 gene Leigh syndrome, it is important to speak to a doctor or genetic counselor as soon as possible.

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 LIPT1 Gene Leigh syndrome due to pyruvate and alpha-ketoglutarate dehydrogenase deficiencies, LIPT1 related NGS Genetic DNA Test