This test is part of AmbrySCREEN Version 2™, a targeted mutation panel. Common mutations associated with the following conditions are included on this panel.
This test is part of AmbrySCREEN Version 2™, a targeted mutation panel. Common mutations associated with the following conditions are included on this panel.
Carnitine Palmitoyltransferase II Deficiency: Infants with the lethal neonatal form of this disorder usually experience respiratory failure, liver failure, seizures, and an irregular heart beat (arrythmia) leading to cardiac arrest. In many cases, the brain and kidneys are also abnormal. Usually, affected infants do not survive their first year. Signs and symptoms of the infantile hepatocardiomuscular type of this disorder usually appear between the ages of 6 and 24 months and involve hypoglycemia, loss of consciousness or seizures, liver failure and an enlarged liver are also sometimes seen.
Specific mutation analysis of the CPT2 gene (p.D328G, p.G549D, K414TfsX7delGA, p.M214T, p.P227L, p.P50H, p.R151Q, p.R382K, p.R503C, p.R631C, p.S113L, p.Y120C, p.Y628S).