Table 2 Genetic and Instrumental tests performed in the cohort are indicated
Diagnostic tests | Percentage of patients testing pathologic | Percentage of patients performing the test |
|---|---|---|
ABR | 39 % | 41 % |
EEG | 37 % | 29 % |
Brain MRI | 47 % | 57 % |
Karyotype | 0 % | 71 % |
FRAX-A | 0 % | 26 % |
Prader-Willi/Angelman | 0 % | 6 % |
FISH 22q11.2 | 0 % | 6 % |
FISH 7q11 | 0 % | 2 % |
Rubinstein-Taybi | 0 % | 6 % |
Subtelomeric rearrangements analysis | 0 % | 6 % |
Other molecular analyses | 0 % | 21 % |
Plasma amino acids and acylcarnitines | 0 % | 59 % |
Urine organic acids | 0 % | 46 % |
Plasmatic ammonia and lactic acid | 0 % | 40 % |
Oligosaccharides (urine) | 0 % | 13 % |
Glycosaminoglycans (urine) | 0 % | 11 % |
Serum transferrin isoform profiling | 0 % | 9 % |
Sterols (plasma) | 0 % | 6 % |