Angelman Syndrome MLPA

TEST CODE MG05890
TEST NAME Angelman Syndrome MLPA
RELATED GENE MKRN3, MAGEL2, NDN, SNRPN, UBE3A, ATP10A, GABRB3, OCA2
SYNONYMOUS MKRN3, MAGEL2, NDN, SNRPN, UBE3A, ATP10A, GABRB3, OCA2
OMIM x
HEREDITY x
CLINICAL AREA Angelman Syndrome is a rare genetic disease caused by a deletion involving the 15q11-13 locus, uniparental disomy, imprinting defect, or UBE3Agen defect. Angelman Syndrome occurs when chromosome with 15q11-q13 deletion is inherited from the mother.
METHOD MLPA
SAMPLE TYPE Blood with EDTA
QUANTITY 3 ml
TAT 40 DAYS

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