Test Code: BWSSRS

Genes: - 11p15.5 region, which includes genes like CDKN1C, IGF2, H19, and KCNQ1OT1 (0 genes)

Sample Type: Blood, amniotic fluid

Method: MS-MLPA

Turnaround Time: 10 Days

Courier: Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.

Price: 900

Description:
BWS: Maternal hypomethylation at ICR2 (KCNQ1OT1), hypermethylation at maternal ICR1 (H19), copy number variants, segmental mosaic UPD11pat, and maternally-inherited variants of CDKN1C. SRS: Paternal methylation at ICR1, CNVs simulating maternalisation of ICR1, UPD7mat, other rare imprinting anomalies, and diverse CNVs.