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Condition
Test Name
MLPA for common microdeletion syndromes
Inclusive Genes
1p36 deletion syndrome, 2p16.1-p15 microdeletion syndrome, 2q23.1 microdeletion/microduplication syndrome, Glass syndrome, 3q29 microdeletion syndrome, 3q29 microduplication syndrome, Wolf-Hirschhorn syndrome, Cri-du-Chat syndrome, Sotos syndrome, Williams-Beuren syndrome, Williams-Beuren duplication syndrome, Langer-Giedion syndrome, 9q22.3 microdeletion syndrome, DiGeorge syndrome-2, Prader-Willi syndrome, Witteveen-Kolk* / 15q24 microdeletion syndrome, Rubinstein-Taybi syndrome, Miller-Dieker syndrome, Lissencephaly-1, Smith-Magenis syndrome, Potocki-Lupski syndrome, NF1 microdeletion syndrome, Koolen-de Vries syndrome, 17q21.31 microduplication syndrome, DiGeorge syndrome, 22q11.2 microduplication syndrome, Distal 22q11.2 deletion syndrome, Phelan-McDermid syndrome, Rett syndrome, MECP2 duplication syndrome
Specimen Type
Peripheral blood/purified genomic DNA/chorionic villus sample (CVS)/amniotic fluid