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ID:799 MLPA microdeletion test
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Description A test for common microdeletions using MLPA.
Indication Query microdeletion/microduplication syndrome.
Additional Info Multiple microdeletion syndromes assayed simultaneously. General requests wilthout clinical details will not be processed. Syndromes tested are: 1p36 deletion syndrome, 2p16 deletion syndrome, 3q29 deletion, Wolf-Hirschhorn syndrome, Cri-du-Chat, SOTOS, Williams syndrome and 7q11.23 duplication, 8q23 deletion, DiGeorge syndrome and DiGeorge syndrome region 2, WAGR syndrome, Prader-Willi/Angelmans syndrome, 15q24 deletion, Rubinstein-Taybi, Smith-Magenis and 17p11.2 duplication, Miller Dieker, NF1 deletion, 17q21 deletion, Phelan-McDermid syndrome, MECP2 duplication syndrome.
Concurrent Testsna
Dietary Requirementsna
Interpretation

DepartmentGenetics - DNA Lab
Sample* Not Specified *
Tube
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Collection ConditionsCollect 1ml blood into an EDTA tube and 1ml blood into a lithium heparin tube. If not enough for two samples collect into lithum heparin in the first instance ( although this may compromise which tests can be performed).
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Ref. Range Notes
Units - Not Defined -
IP Acute TAT- Not Defined -
IP Routine TAT- Not Defined -
GP Acute TAT- Not Defined -
GP Routine TAT- Not Defined -
Turnround CommentNA

Originally edited by : J Hayes. Review due on 08/12/2009 08:18:08. Published By on 08/12/2009 08:18:17.