Version July 2025
| Disease or syndrome | Incidence | Carrier frequency | Percent of carriers with recessive mutations detected by the test |
| Cystic fibrosis | 1/2500 to 1/3300 | 1/19 to 1/29 | 97 |
| Familial dysautonomia | 1/3600 to 1/5000 | 1/30 to 1/32 | 99 |
| Canavan | 1/3000 to 1/6000 | 1/40 | 98 |
| Tay-Sachs | 1/3000 to 1/3600 | 1/25 to 1/30 | 96 by enzyme, 94 by DNA |
| Gaucher | 1/900 | 1/15 | 95 |
| Mucolipidosis type IV | 1/40,000 to 1/62,500 | 1/100 to 1/127 | 95 |
| Niemann-Pick SMPD-1 related (type A and B) | 1/32,000 | 1/90 | 95 |
| Fanconi anemia group C | 1/32,000 | 1/89 | 99 |
| Bloom | 1/40,000 to 1/48,000 | 1/100 | 95 to 97 |
| Lipoamide dehydrogenase deficiency | 1/46,000 | 1/107 | >95 |
| ABCC8-related familial hyperinsulinism | 1/18,000 | 1/68 | 90 |
| NEB-related nemaline myopathy type 2 | 1/113,000 | 1/120 | >95 |
| Joubert | 1/34,000 | 1/102 | >99 |
| Usher type 1F | 1/86,000 | 1/165 | >75 |
| Usher type 3 | 1/57,000 | 1/107 | >95 |
| Glycogen storage type I | 1/16,000 | 1/64 | 98 |
| Maple syrup urine | 1/50,000 | 1/81 | >99 |
| Walker-Warburg | 1/60,500 | 1/149 | >95 |
