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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