This Microdeletion Syndromes panel has been developed by MRC Holland to screen patients presenting with unexplained developmental delay and/or mental retardation for multiple microdeletion syndromes simultaneously. Results suggesting a deletion or duplication of a given chromosomal region can be confirmed by other techniques or by a syndrome-specific MLPA kit.

The test can be performed on amniotic fluid or whole blood.

The microdeletion syndromes-1 detected with this panel include:

1p36 deletion syndrome
2p16 microdeletion
3q29 microdeletion
9q22.3 microdeletion
15q24 deletion syndrome
17q21 microdeletion
22q13 / Phelan-McDermid
Cri du Chat syndrome, 5p15
DiGeorge syndrome 22q11
DiGeorge region 2, 10p15
Langer-Giedion syndrome, 8q
Miller-Dieker syndrome, 17p
NF1 microdeletion syndrome
Prader-Willi / Angelman
MECP2 / Xq28 duplication
Rubinstein-Taybi syndrome
Smith-Magenis syndrome
Sotos syndrome 5q35.3
Wagr syndrome
Williams syndrome
Wolf-Hirschhorn 4p16.3

This test is designed to detect /duplications of one or more sequences in the above mentioned chromosomal regions in a DNA sample. Heterozygous deletions of autosomal recognition sequences should give a 35-50% reduced relative peak area of the amplification product of that probe. Deletions of a probe’s recognition sequence on the X-chromosome will lead to a complete absence of the corresponding probe amplification product in males, whereas female heterozygotes are recognisable by a 35-50% reduction in relative peak area. Note that a mutation or polymorphism in the sequence detected by a probe can also cause a reduction in relative peak area, even when not located exactly on the ligation site! In addition, some probe signals are more sensitive to sample purity and small changes in experimental conditions. Therefore, deletions and duplications detected by MLPA should always be confirmed by other methods.