Table 2.

Genes on commercial laboratory NBS panels considered adult-onset by ASQM

Gene	OMIM phenotype	Inheritance	Outcome considered	Age of onset	Intervention considered	Age of intervention implementation	Severity	Likelihood	Efficacy	Acceptability	Knowledge	Total	ASQM Category
NF2	Neurofibromatosis type 2	AD	Acoustic neuroma and meningiomas	Adulthood	Referral to specialists for surveillance and early management	Adolescent	1	3	1	3	3	11	3
SERPINA1	Emphysema-cirrhosis, due to AAT deficiency	AR	Syndromic manifestations	Adulthood	Referral to specialists for surveillance and early management	Adulthood	2	3	1	3	3	12	3
HGD	Alkaptonuria	AR	Arthritis	Adulthood	Referral to specialists for surveillance and supportive care	Adulthood	1	3	0	0	3	7	4
NAGA	Kanzaki disease (Schindler’s Disease type II)	AR	Syndromic manifestations	Adolescent/Adult	Referral to specialists for surveillance and supportive care	N/A	1	3	0	0	1	5	4
PRNP	Creutzfeldt-Jakob disease / Huntington disease-like 1 / Prion disease with protracted course/Cerebral amyloid angiopathy, PRNPrelated/Gerstmann-Straussler disease / Insomnia, fatal familial / {Kuru, susceptibility to}	AD	Progressive neurodegeneration	Adulthood	Referral to specialists for surveillance and supportive management	N/A	2	3	0	0	2	7	4

Five genes listed on commercial laboratory NBS panels were defined as being associated with an adult-onset condition and categorized into ASQM Category 3 or ASQM Category 4 based on actionability scoring. NF2 was listed on Fulgent’s panel and SERPINA1, HGD, NAGA, PRNP were all found on PerkinElmer’s panel. Phenotypic association, inheritance, outcome considered for scoring, age of onset, intervention considered for scoring, individual scores for the five ASQM criteria (severity of disease, likelihood of presentation, efficacy and acceptability of intervention, and knowledge base), ASQM total score, and category indicate what was reviewed and decided upon by the scoring committee