Detection criteria | Gain | Loss | ROH | Â |
Minimum marker count | 10 | 10 | 500 (SNP probes) | Â |
Minimum size (kb) | 20 | 10 | 1250 | Â |
Reporting criteria | Gene content of CNV | Size of CNV (kb) | Â | Â |
 | Known disease gene, matching the phenotype | <20 |  |  |
 | Known disease gene(s)* | >20 |  |  |
 | No disease gene(s) | >100 |  |  |
 | No genes | >500 |  |  |
 | ROH | Size of ROH (Mb) |  |  |
 |  | > 10 | Genomic Oligoarray and SNP array evaluation tool v2.0 [24] → recessive disease causing genes → mutation detection | Positive → Parental mutation carrier analysis |
 |  | < 10 | In case of a specific clinical suspicion for a known syndrome → Genomic Oligoarray and SNP array evaluation tool v2.0 [24] →recessive disease causing genes → mutation detection | Positive → Parental mutation carrier analysis |
Parental testing | Type of CNV | Follow-up test | Â | Â |
 | Uncertain | Array analysis |  |  |
 | Clinically relevant: |  |  |  |
 | - cytogenetically visible (> 5–10 Mb) | Karyotyping |  |  |
 | - submicroscopic aberration (<1-10 Mb) | FISH |  |  |