Table 1.
A brief sample of the additional genetic disorders potentially identifiable by genomic sequencing in newborn screening.
| Disorder | Treatment | Other potential benefit |
|---|---|---|
| Smith–Lemli–Opitz syndrome | Cholesterol | Family planning1 |
| Duchenne muscular dystrophy | Drug (?) | Patient planning |
| Family planning | ||
| Congenital disorders of glycosylation | None2 | Family planning |
| Neurofibromatosis | None | Patient planning |
| Family planning | ||
| Wilson disease | Penicillamine | Family planning |
| Menkes disease | Copper | Family planning |
| Lysosomal storage disorders | Enzyme | Family planning |
1
Family planning includes prenatal or pre-implantation diagnosis.
2
The exception is type 1b in which mannose therapy may be very effective.