| Across all CIMDRN-targeted diseases | Ascertainment method (e.g., by NBS, family history, etc.) | 0% |
| Number of visits to metabolic clinic to determine diagnosis | 9% |
| Age at diagnosis | 9% |
| Centre where diagnosis was established | 0% |
| For those not ascertained by NBS (n = 138), was a NBS test done?a | 50% |
| For those ascertained by NBS (n = 626), was the NBS test positive for the diagnosed disease?a | 1% |
| For those whose NBS test was positive (n = 620), date of NBS test positive/referrala | 9% |
| For those diagnosed symptomatically (n = 125), age at first symptoma | 17% |
| For those diagnosed symptomatically (n = 125), presenting symptomsa | 0% |
| Diagnostic tests considered universally important |
| PAH deficiency (n = 215) | Plasma amino acid profile | 2% |
| MCAD deficiency (n = 127) | Acylcarnitine profile | 10% |
| VLCAD deficiency (n = 33) | Acylcarnitine profile | < 10% |
| MPS type I (n = 18) | α-L-iduronidase activity | < 10% |
