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Table 3.

Comparison of Different Methods Used to Detect Deletion and Duplication of the CYP21A2 Gene

Detection Combined methods SB MLPA andPCR-RFLP MMCP
Deletion on one allele 49 49 49 43
Deletion on two alleles 15 15 15 15
Duplication 4 4 4 3
No deletion and duplication 65 65 65 58
Status unknown 0 0 0 13

Numbers of detected samples are shown.

Final results were given based on all assays used.

Based on proband and parental data.