METHOD KEY

  • Sequencing with CNV
    PGxome
  • Sequencing with CNV
    PG-Select
  • CNV via aCGH
  • Sanger Sequencing
  • MLPA
  • Repeat Expansion
  • Other

Metabolic and Mitochondrial Disorders

Disorders of mitochondrial energy metabolism, or oxidative phosphorylation (OXPHOS) disorders, are characterized by reduced activity of one (isolated) or more (combined) mitochondrial respiratory chain complexes. Mitochondrial disorders are clinically heterogeneous, and phenotypes, which range in severity and progression, can involve single or multiple organ systems. In addition, PreventionGenetics offers a wide variety of genetic testing for inherited metabolic disorders, also known as inborn errors of metabolism. Our expert PhD team has assembled a robust metabolic and mitochondrial disorders genetic test menu. Panels specific to one disorder are available, as well as comprehensive metabolic panels that cover broader phenotypic features or groups of similar disorders. Quality genetic testing is imperative for characterizing rare diseases and can help make informed treatment decisions.

CMA

Amino Acid and Urea Cycle Disorders

Carbohydrate Disorders

Congenital Disorders of Glycosylation

Disorders of Ketone Body Metabolism

Endocrine System Disorders

Fatty Acid Oxidation, Sterol, and Lipoprotein

Hypoglycemia

Lysosomal Disorders

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance

Metal Metabolism or Transport Disorders

Mitochondrial DNA

Mitochondrial Disorders

Neonatal and Fetal Concerns

Organic Acidemia/Acidurias

Peroxisomal Disorders

Phenotype Based Panels - Metabolic & Mitochon

Porphyria

METHOD KEY

  • Sequencing with CNV
    PGxome
  • Sequencing with CNV
    PG-Select
  • CNV via aCGH
  • Sanger Sequencing
  • MLPA
  • Repeat Expansion
  • Other