Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Chromosome Anomaly, Uniparental Disomy 15, Paternal

IVD Test Reagent/Kits, Molecular Assay, Chromosome Anomaly, Uniparental Disomy 15, Paternal

Definition : Molecular assay reagents intended for use in identifying the abnormal situation in which both members of the chromosome pair 15 are inherited from the father (i.e., uniparental disomy [UPD]) and the mother's chromosome for that pair is missing. Paternally inherited disomy 15 results in Angelman's syndrome, which is characterized by developmental disability with absent speech, ataxic movements and gait, seizures, and paroxysmal laughter. 2-3% of Angelman's syndrome patients have paternal UPD15, and 70% have a deletion in 15q11-15q13.

Entry Terms : "Disomy 15 Detection Reagents" , "Prader-Willi Syndrome (PWS) Diagnostic Reagents" , "Angelman Syndrome (AS) Diagnostic Reagents" , "Paternal Disomy Detection Reagents" , "Chromosome Anomaly Detection Reagents, Paternal Disomy" , "Reagents, Molecular Assay, Chromosome Anomaly, Uniparental Disomy 15, Paternal"

UMDC code : 24034

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