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FISH Testing Microdeletion Syndromes - Overview

General Information

Microdeletion Syndrome* Chromosome
1p36 Microdeletion Syndrome 1p36
3q29 Microdeletion Syndrome 3q29
Wolf-Hirschhorn Syndrome 4p16.3
Cri-du-chat Syndrome 5p15.2
Williams-Beuren Syndrome 7q11.23
9q34.3 Microdeletion Syndrome 9q34.3
Angelman Syndrome 15q11q13
Prader-Willi Syndrome 15q11q13
Miller-Dieker-Lissencephalie Syndrome 17p13.3
Smith-Magenis Syndrome 17p11.2
17q21.31 Microdeletion Syndrome 17q21.31
DiGeorge Syndrome 22q11.2
Velo-Cardio-Facial Syndrome 22q11.2
Phelan-McDermid Syndrome 22q13.3
Ichthyosis, X-linked Xp22.31
Kallmann Syndrome Xp22.31
Microduplication Syndrome* Chromosomal region
Microduplication 7q11.23 7q11.23
Microduplication 17p11.2 17p11.2
Microduplication 22q11.2 22q11.2


*  see also detailed syndrome information

 

Diagnostic

 

Method

FISH

MLPA

Array-CGH

Sample Requirement

2 - 5 ml of heparinised blood

2 - 4 ml of EDTA blood

Duration

2 - 3 weeks



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