METHOD KEY

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

Metabolic and Mitochondrial Disorders

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