Table 1

Suggested routine investigations on children

N=responses
Audiology
Audiograms12
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
Haematology1
U&Es and creatinine2
TFTs21
Thyroid autoantibodies1
Liposomal storage enzymes2
Other urine tests 12
Urine analysis (variously for blood, protein, oligosaccharides and/or microscopy)
Ophthalmological assessment 26
Cardiac assessment
ECG31
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 USS3
CXR1
Miscellaneous
Perchlorate discharge test2
EEG1