Microdeletion (the most common arrangements of chromosome microdeletion) MLPA test
Analysis ID 18
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Microdeletion (the most common arrangements of chromosome microdeletion) MLPA test
OMIM
Clinical information MLPA (Multiplex Ligation-dependent Probe Amplification) is a multiplex PCR method, detecting abnormal copy numbers up to 50 different genomic DNA.
Type of analysis Molecular, fragment analysis (capillary electrophoresis)
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes Regions for common chromosome microdeletion/microduplication disorders
Analysis description Identified microdeletion/microduplication syndromes (all in single analysis): 1p36, 2p16, 3q29, 9q22.3, 15q24, 17q21, 22q13 / Phelan-Mcdermid, cri-du-chat syndrome, DiGeorge Syndrome 22q11, DiGeorge region 2 (10p15), Langer-Giedion syndrome (8q), Miller-Dieker syndrome, (17p), NF1, Prader-Willi syndrome / Angelman, MECP2, Xq28 duplication, Rubinstein-Taybi Syndrome, Smith-Magenis Syndrome, Sotos Syndrome, Wagr Syndrome, Williams Syndrome, Wolf-Hirschhorn Syndrome
Analysis indication Intellectual disability, dysmorphic features suggesting microdeletion/microduplication disorders
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for molecular genetics