This test is part of AmbrySCREEN Version 2™, a targeted mutation panel. Full gene sequencing of the LRPPRC gene is not available.
This test is part of AmbrySCREEN Version 2™, a targeted mutation panel. Full gene sequencing of the LRPPRC gene is not available.
This disease is characterized by progressive degeneration of the brain and dysfunction of other organs of the body including the heart, kidneys, muscles, and liver. Symptoms may include loss of previously acquired motor skills, loss of appetite, vomiting, irritability, and/or seizure activity. As the disease progresses, symptoms may also include generalized weakness; loss of muscle tone and/or episodes of lactic acidosis.
Specific mutation analysis of the LRPPRC gene include M680I(c.2040G>C).