GTD Indications
Diagnosis
Prenatal
GTD Samples Accepted
Blood
Cultured Cells
Amniocyte
CVS
Products of Conception
Skin Punch
GTD Test Methodology
FISH
GTD Methodology Notes
Constitutional FISH
GTD Notes
Before requesting this test, please contact the lab for information regarding eligibility and availability of testing for your patient.
Generic Test name (cms title)
FISH: Smith-Magenis Syndrome
GTD Test type
Cytogenetic
GTD Location
Kingston General Hospital
GTD Gene/Platform/Region List
SHMT1/TOP3A/FLII/LLGL1
GTD Category
Chromosomal Anomalies
GTD Disease/Condition
Smith-Magenis syndrome (Smith-Magenis syndrome (SMS), Chromosome 17p11.2 deletion syndrome)