MLPA microdeletions

Two different MLPA-kits are used (P064 en P245). Both kist contain probes for the following syndromes: 1p36 deletion syndrome (10 probes, 100%), 2p16.1 microdeletion syndrome (2 probes, 100%), 3q29 microdeletion syndrome (2 probes, 100%), 9q22.3 microdeletion syndrome (2 probes, 100%), 15q24 deletion syndrome (2 probes, 100%), 17q21.31 microdeletion syndrome (3 probes, 100%), 22q13.3 deletion syndrome/Phelan-Mcdermid syndrome (2 probes, 100%), Alagille syndrom (20p12.2, 2 probes, <10%), Angelman syndrome (15q11.2, 9 probes, 70%), Cri du Chat (5p-) syndrome (5p25, 2 probes, 100%), DiGeorge region 2 (10p15, 2 probes, 100%), DiGeorge syndrome (22q11.21, 9 probes, >95%), Langer-Giedion syndrome (8q24.12, 2 probes, 100%), MECP2 duplication (Xq28, 3 probes, 100%), Miller-Dieker syndrome (17p13.3, 9 probes, 90%), NF1 microdeletion syndrome (17q11.2, 2 probes, 100%), Prader-Willi syndrome (15q11.2, 9 probes, 70%), Rubinstein-Taybi syndrome (16p13.3, 1 probe, 10%), Saethre Shotzen syndrome (7p21.2, 2 probes, ±20%), Smith-Magenis syndrome (17p11.2, 8 probes, 90%), Sotos syndrome (5q35.3, 5 probes, 10-45%), Wagr syndrome (11p13, 1 probe, 100%), Williams syndrome (7q11.23, 9 probes, 100%) en het Wolf-Hirschhorn (4p-) syndrome (4p16.3, 2 probes, 100%).

The percentage listed after the number of probes indicates the percentage of patients with this syndrome who are diagnosed with these tests.