• Days of age from birth primary or subspecialist first notified about abnormal NBS screen
• Reason for first newborn screen
• Newborn hearing screen performed
• Patient status at time of NBS reporting to specialty center
• Condition enzyme assay
• Type of genetic/genomic testing
• Gene(s) associated with Condition
• Gene: Specify allele 1
• Gene: Specify allele 2
• Mother: Allele 1
• Mother: Allele 2
• Date of last outpatient speciality visit
• Patient consent valid
• Location of visit
• Patient has moved to a new residence since the last visit
• Patient has enrolled in a research study since the last visit
• Medical coverage at visit
• Patient has new biological sibling since last visit
• Reason immunization status not up to date
• Current comorbidities