Exhibit E List of Conditions.docx

Exhibit E is a regulatory document from Colorado outlining the newborn screening requirements under 5 CCR 1005-4 for the state's Newborn Screening Program. The document specifies a comprehensive list of 39 genetic and metabolic conditions that laboratories must screen for in newborn samples. These conditions include primary disorders such as Phenylketonuria, Congenital Hypothyroidism, Hemoglobinopathies, Galactosemia, and Cystic Fibrosis, along with an extensive array of metabolic disorders including various fatty acid oxidation defects, amino acid metabolism disorders, and organic acidemias. The list also includes screening requirements for storage disorders such as Glycogen Storage Disease Type II (Pompe Disease), Mucopolysaccharidosis Type 1, and X-Linked Adrenoleukodystrophy.

This document serves as the technical specification for the scope of testing services that vendors must be capable of performing under Colorado's Newborn Screening Program Instrumentation and Reagents contract. The conditions listed represent the mandatory panel of tests that contracted laboratories must implement and maintain, requiring vendors to provide appropriate instrumentation and reagent supplies to support the accurate detection and identification of these disorders in newborn screening samples.