Organic Acidemias/Acidurias (Organic Acid Disorders, OADs) are an important group of inherited metabolic disorders that share a defect in intermediary metabolic pathways of carbohydrate, amino acids and fatty acid oxidation. These enzymatic defects lead to an accumulation of organic acids in tissues and their subsequent excretion in urine. As patients age, the natural progression of organic acidemias lead to intellectual difficulties, increased risk for neurologic complications such as stroke-like episodes and cardiac complications among others. All organic acidurias are inherited in an autosomal recessive pattern.
The Igenomix Organic Acidemias/Acidurias Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of hyperammonemia and high anion gap metabolic acidosis ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
- The Igenomix Organic Acidemias/Acidurias Precision Panel is indicated for those patients with a clinical suspicion or diagnosis an organic acidemia with or without the following manifestations:
- Developmental delay
- Mental retardation
- Failure to thrive
- Respiratory distress
- Cardiac dysfunction
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of treatment with a multidisciplinary team in the form of nutritional therapy, correction of fluid and electrolyte imbalances, adequate cerebral perfusion.
- Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
- Improvement of delineation of genotype-phenotype correlation.
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