Test Code: BWSSRS
Beckwith-Wiedemann and Silver-Russell syndromes (BWS/SRS)
Cytogenetics
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.
Sample Type
Blood, amniotic fluid
Turnaround Time
10 Days days
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing
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Genes Analyzed
5 genes
- 11p15.5 region
which includes genes like CDKN1C
IGF2
H19
and KCNQ1OT1
Methodology
MS-MLPA
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