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Genetic Test Details

Constitutional FISH panel: Smith-Magenis Syndrome

Test Information

Titre
Constitutional FISH panel: Smith-Magenis Syndrome
Catégorie
Chromosomal Anomalies
Sub Category
FISH: Smith-Magenis Syndrome
Gene/Platform/Region List

17p11.2 (FLII, TOP3, SHMT1)

Test type
Cytogenetic
Samples Accepted
Blood, Cultured Cells, Amniocyte, CVS, Products of Conception, Skin Punch
Indications
Diagnostics, Prenatal
Test Methodology
FISH
Methodology Notes

Constitutional FISH

Disease/Condition

Smith-Magenis syndrome (Smith-Magenis syndrome (SMS), Chromosome 17p11.2 deletion syndrome)

Dernière Mise à Jour: 04 juin 2026