Microdeletion Syndromes, FISH Probe
FISH for Microdeletion Syndrome
FISH for Angelman Syndrome (15q11.2)
FISH for DiGeorge/VCF Syndrome (22q11.2)
FISH for Miller-Dieker Syndrome (17p13.3)
FISH for Prader-Willi Syndrome (15q11.2)
FISH for Smith-Magenis Syndrome (17p11.2)
FISH for Williams Syndrome (7q11.23)
FISH for Microduplication of 15q11-q13
GENERIC CYTOGENETICS TEST
FISH for Sex Chromosome Abnormalities
XX/XY FISH in Turner Syndrome
FISH for Genetic Disorder (Non-malignant)
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Fluorescence In Situ Hybridization (FISH)
FISH testing is available for a wide range of microdeletion syndromes, such as DiGeorge, Prader-Willi, Angelman, Smith-Magenis, Miller-Dieker, and Williams Syndromes. FISH testing is also available for detection of microduplication 15q11-q13 and as adjunct testing for sex chromosome abnormalities. These FISH tests should be used for well defined syndromes. If multiple microdeletion FISH tests are desired a Chromosomal Microarray Analysis (available from the MMGL Molecular Genetics Laboratory) should be considered.
Interpretive report provided.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
FISH testing is performed as an adjunct to Chromosome Analysis when appropriate using the specimen submitted for Chromosome Analysis, unless otherwise approved by the Cytogenetics Laboratory Director. Specimen transport should be arranged so that the specimen is received by MLabs the same day it is collected. Call for a STAT courier if necessary. Collect specimen in a green top (sodium heparin) tube. Invert the tube several times to prevent clotting. Send the specimen intact at room temperature as soon as possible. DO NOT CENTRIFUGE. Clotted or hemolyzed specimens, or those from septic patients, are unacceptable.