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Table 2 Contribution of PCNV/UPD to molecular diagnoses when CMA was performed before, concurrently, or after ES

From: Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

  Number of patients PCNV/UPD by CMA PCNV/UPD detection rate# SNV detection rate* Contribution of PCNV/UPD in molecularly diagnosed cases
ES + CMA 3229 184 5.9% (189/3226) 28.5% (919/3220) 17.4% (189/1089)
CMA done before ES 1977 84 4.6% (91/1977) 32.6% (643/1972) 12.5% (91/727)
 Partially solved   63    
 Inconclusive/non-diagnostic   19    
 Positive only once combined with ES data   1    
 Missed by CMA in original report   1    
Concurrent CMA/ES 1045 75 7.2% (75/1042) 24.1% (251/1041) 23.6% (75/318)
 Solved without ES   49    
 Partially solved   22    
 Inconclusive/non-diagnostic   3    
 Positive only once combined with ES data   1    
CMA done after ES 207 22 11.1% (23/207) 12.1% (25/207) 50.0% (23/46)
 Solved   16    
 Partially solved   5    
 Positive only once combined with ES data   1    
  1. #PCNV/UPD detection rate calculation includes the PCNVs/UPD detected by CMA and/or the QC array
  2. *Does not include cases with autosomal recessive gene deletions or other PCNVs
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Genome Medicine

ISSN: 1756-994X

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