METHOD KEY

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

Newborn Screening Follow-up

Amino Acid & Urea Cycle Disorders

Disorders of Folate Metabolism and Transport

Endocrine Disorders

Fatty Acid Oxidation, Sterol, & Lipoprotein M

Galactosemias

Hemoglobin Disorders

Hypoglycemia

Inborn Errors of Immunity/Immunodeficiency

Lysosomal Storage Disorders

Organic Acidemias

Other Disorders

Peroxisomal Disorders

METHOD KEY

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