Table 1.
Diagnostic yield for commonly ordered gene panels (n ≥ 10 samples) at the University of Minnesota from 2012 to 2017.
| Panel | Total cases | Number of genesa | Diagnostic findings | Possible diagnostic findings | Negative findings | Diagnostic yield (%) (Diagnostic + Possible diagnostic) |
|---|---|---|---|---|---|---|
| Phenylketonuria | 52 | 1 | 49 | 1 | 2 | 96 |
| Fanconi anemia | 39 | 1–18 | 30 | 4 | 5 | 87 |
| Epidermolysis bullosa | 27 | 1–13 | 20 | 3 | 4 | 85 |
| Retinal dystrophy panel | 69 | 32–315 | 40 | 15 | 14 | 80 |
| Adrenoleukodystrophy | 18 | 1 | 13 | 1 | 4 | 78 |
| Albinism | 42 | 1–24 | 20 | 12 | 10 | 76 |
| Congenital hyperinsulinism | 12 | 7–14 | 3 | 5 | 4 | 67 |
| Craniosynostosis | 13 | 1–20 | 5 | 2 | 6 | 54 |
| Hearing loss (all subpanels combined) | 173 | 2–149 | 50 | 37 | 86 | 50 |
| Achondroplasia | 10 | 1 | 5 | 0 | 5 | 50 |
| Congenital myopathy | 35 | 1–29 | 9 | 8 | 18 | 49 |
| Alport syndrome | 48 | 3 | 20 | 3 | 25 | 48 |
| Stickler Syndrome | 13 | 1–6 | 5 | 1 | 7 | 46 |
| Ataxia/Hereditary Spastic Parapresis | 23 | 28–101 | 3 | 7 | 13 | 43 |
| Hereditary spastic paraparesis | 26 | 1–74 | 7 | 4 | 15 | 42 |
| Limb girdle muscular dystrophy | 24 | 1–36 | 6 | 4 | 14 | 42 |
| Ataxia | 25 | 21–67 | 3 | 7 | 15 | 40 |
| Carnitine acetyltransferase deficiency | 10 | 1 | 1 | 3 | 6 | 40 |
| Cystic fibrosis | 10 | 1 | 3 | 1 | 6 | 40 |
| Noonan syndrome | 40 | 5–22 | 15 | 0 | 25 | 38 |
| Hereditary hemorrhagic telangiectasia | 11 | 1–4 | 4 | 0 | 7 | 36 |
| Periodic paralysis syndromes | 11 | 2–5 | 3 | 1 | 7 | 36 |
| Polycystic kidney disease | 11 | 1–9 | 3 | 1 | 7 | 36 |
| Charcot Marie Tooth | 117 | 1–58 | 32 | 9 | 76 | 35 |
| Glycogen storage disease | 17 | 1–25 | 5 | 0 | 12 | 29 |
| Complex neurologic | 45 | 6–266 | 4 | 8 | 33 | 27 |
| Osteogenesis imperfecta | 34 | 2–16 | 7 | 2 | 25 | 26 |
| Hypophosphotasia | 35 | 1 | 9 | 0 | 26 | 26 |
| Malignant hyperthermia | 12 | 1–2 | 2 | 1 | 9 | 25 |
| Vascular malformations | 12 | 1–5 | 2 | 1 | 9 | 25 |
| X-linked Intellectual disability | 16 | 43 | 3 | 1 | 12 | 25 |
| Disorders of sex development | 22 | 16–63 | 3 | 2 | 17 | 23 |
| Myofibrillar myopathy | 14 | 5–13 | 0 | 3 | 11 | 21 |
| Parkinson's disease | 27 | 2–25 | 3 | 2 | 22 | 19 |
| Cornelia de Lange syndrome | 11 | 5–8 | 2 | 0 | 9 | 18 |
| Aortopathy (TAAD) | 60 | 2–27 | 6 | 4 | 50 | 17 |
| Periodic fever panel | 18 | 7–9 | 3 | 0 | 15 | 17 |
| Urea Cycle | 12 | 1–6 | 2 | 0 | 10 | 17 |
| Dyskeratosis congenita | 13 | 7–24 | 2 | 0 | 11 | 15 |
| Focal segmental glomerulosclerosis | 20 | 8–40 | 2 | 1 | 17 | 15 |
| Marfan syndrome | 38 | 1–3 | 2 | 3 | 33 | 13 |
| Li Fraumeni syndrome | 25 | 1–3 | 3 | 0 | 22 | 12 |
| Macrocephaly/Overgrowth | 10 | 3–18 | 1 | 0 | 9 | 10 |
| Hereditary breast/ovarian cancer | 126 | 2–18 | 11 | 1 | 114 | 10 |
| Connective tissue disorder | 48 | 2–29 | 2 | 2 | 44 | 8 |
| Developmental eye panel | 12 | 14–31 | 1 | 0 | 11 | 8 |
| Renal coloboma syndrome | 13 | 1 | 1 | 0 | 12 | 8 |
| Ehlers Danlos syndrome | 111 | 1–16 | 5 | 2 | 104 | 6 |
| Dystonia | 17 | 1–18 | 1 | 0 | 16 | 6 |
| Motor neuron disease | 19 | 5–85 | 1 | 0 | 18 | 5 |
| Myoclonus dystonia | 20 | 1–3 | 1 | 0 | 19 | 5 |
a
The number of genes requested for each panel varied both due to the addition of genes to panels over time and due to customization by ordering providers based upon the specific patients clinical presentation and/or family history.