Molecular Pathology Laboratory Network

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AneuVysion®: +13, +18, +21, X, Y

Test CodeF ANEU
AssociationsTrisomy 13, trisomy 18, trisomy 21, aneuploidy X or Y
MethodologyFluorescence in situ Hybridization (FISH)

Angelman Syndrome

Test CodeF AS
AssociationsAngelman Syndrome
MethodologyFluorescence in situ Hybridization (FISH)

Cri-du-Chat Syndrome

Test CodeF CAT
Associations5p- syndrome, Cat cry syndrome
MethodologyFluorescence in situ Hybridization (FISH)

DiGeorge/Velo-Cardio-Facial Syndrome

Test CodeF VCF
AssociationsDiGeorge syndrome
MethodologyFluorescence in situ Hybridization (FISH)

Kallmann Syndrome

Test CodeF KAL
MethodologyFluorescence in situ Hybridization (FISH)

Miller-Dieker Syndrome / Lissencephaly

Test CodeF LIS
AssociationsMiller-Dieker syndrome, Lissencephaly, Neuronal migration defects
MethodologyFluorescence in situ Hybridization (FISH)

Phelan-McDermid Syndrome, deletion 22q13

Test CodeF PMS
MethodologyFluorescence in situ Hybridization (FISH)

Prader-Willi Syndrome

Test CodeF PWS
Associationsdeletion 15q11
MethodologyFluorescence in situ Hybridization (FISH)

Smith-Magenis Syndrome

Test CodeF SMS
AssociationsDeletion of chromosome 17p11.2
MethodologyFluorescence in situ Hybridization (FISH)

SRY/CEP X

Test CodeF SRY
AssociationsSOX gene, Sex determination, sex chromosome aneuploidy
MethodologyFluorescence in situ Hybridization (FISH)

Steroid Sulfatase Deficiency

Test CodeF STS
AssociationsSTS/CEP X
MethodologyFluorescence in situ Hybridization (FISH)

trisomy 21

Test CodeF T21
AssociationsDown syndrome
MethodologyFluorescence in situ Hybridization (FISH)

Williams Syndrome

Test CodeF WIL
MethodologyFluorescence in situ Hybridization (FISH)

Wolf-Hirschhorn Syndrome

Test CodeF WH
MethodologyFluorescence in situ Hybridization (FISH)

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