METHOD KEY

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

Newborn Screening Follow-up

Newborn screening is critical because it ensures early detection, assists with diagnosis, and can prevent death or disability and enable children to reach their full potential (CDC). We offer newborn screening genetic tests and panels on our genetic test menu with many options to reflex to either exome or genome based on the original test ordered.

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