Multiple congenital anomalies and mental retardation comprise a large, heterogeneous group of diseases that affect approximately 3% of new-borns and microdeletion and microduplication syndromes constitute one of the major contributing factors to this.
Microdeletion and microduplication syndromes are disorders caused by sub microscopic deletions or duplications of contiguous genes on parts of chromosomes. 20 common Microdeletion and duplication regions are testing using this panel by MLPA technology. Both prenatal and postnatal samples can be tested.
|Commmon Microdeletion and duplication Syndromes Tested|
|Wolf-Hirschhorn syndrome||Rubinstein-Taybi syndrome|
|1p36 deletion syndrome||Angelman syndrome|
|Cri-du-Chat syndrome||Miller-Dieker syndrome|
|Sotos syndrome||Lissencephaly-1 17p13.|
|Saethre-Chotzen syndrome||Smith-Magenis syndrome|
|Williams-Beuren syndrome||Potocki-Lupski syndrome|
|Williams-Beuren duplication syndrome||Alagille syndrome|
|Langer-Giedion syndrome||DiGeorge syndrome|
|WAGR syndrome||22q11.2 microduplication syndrome|
|Prader-Willi syndrome||Phelan-McDermid syndrome|
Identifying the Microdeletion and duplication syndrome helps the: