
FISH: Smith-Magenis syndrome
Test Information | |
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Test Name | FISH: Smith-Magenis syndrome |
Lab (Location) | Children's Hospital of Eastern Ontario |
Category | Chromosomal Anomalies |
Subcategory | Smith-Magenis Syndrome |
Gene/Platform/Region List | RAI1, 17p11.2 |
Test type | Cytogenetic |
Samples Accepted | Blood, Amniocyte, CVS |
Indications Diagnosis | Diagnosis, Carrier / Cascade Testing, Prenatal |
Test Methodology | FISH |
Methodology Notes | Metaphase FISH |
Diseases/Conditions | Smith-Magenis syndrome (Smith-Magenis syndrome (SMS), Chromosome 17p11.2 deletion syndrome) |
Notes | Before requesting this test, please contact the lab for information regarding eligibility and availability of testing for your patient. |