Suggested routine investigations on children
| N=responses | |
|---|---|
| Audiology | |
| Audiograms | 12 |
| ABR (only if NF2 suspected) | 1 |
| Virological studies | 19 |
| TORCH screen | |
| Serology (with various age provisos applied) | |
| Viral investigations (non-specifically) | |
| Cytogenetic testing | 5 |
| Chromosomes (if dysmorphic or developmental delay) | |
| Fragile X | |
| Molecular testing | 6 |
| (See question on requests for DNA storage and tests) | |
| Other blood tests | |
| Haematology | 1 |
| U&Es and creatinine | 2 |
| TFTs | 21 |
| Thyroid autoantibodies | 1 |
| Liposomal storage enzymes | 2 |
| Other urine tests | 12 |
| Urine analysis (variously for blood, protein, oligosaccharides and/or microscopy) | |
| Ophthalmological assessment | 26 |
| Cardiac assessment | |
| ECG | 31 |
| Imaging | |
| CT/MRI (various provisos, including if male with mixed deafness or X linked pedigree, if profound or progressive or if NF2 suspected) | 9 |
| Renal USS | 3 |
| CXR | 1 |
| Miscellaneous | |
| Perchlorate discharge test | 2 |
| EEG | 1 |