Molecular Genetic Beckwith - Wiedemann Syndrome Deletion / Duplication Analysis - MLPA
Test Code
MOG20
Also Known As
No data available
Test Parameters Included
No data available
Department
MOLECULAR GENETICS
Methodology
MLPA (Multiplex Ligation-dependent Probe Amplification)
MLPA (Multiplex Ligation-dependent Probe Amplification) is the specialized molecular technique used for Beckwith-Wiedemann Syndrome (BWS) Deletion/Duplication Analysis. BWS is a complex genetic disorder primarily associated with genetic alterations on chromosome 11p15.5, a region containing several imprinted genes. MLPA is a highly sensitive and robust method specifically designed to detect copy number variations (CNVs), which include deletions and duplications of specific genomic regions. For BWS, MLPA probes are designed to target critical genes and regulatory elements within the 11p15.5 region (e.g., CDKN1C, H19, KCNQ1OT1). By quantifying the relative amount of each targeted DNA sequence, MLPA can identify gains (duplications) or losses (deletions) in these regions, as well as abnormal methylation patterns in some cases, which are key molecular mechanisms underlying BWS. This method is crucial for confirming a clinical diagnosis of BWS, identifying the specific molecular subtype, and aiding in prognosis and genetic counseling.
Sample Required
WB EDTA Whole Blood (WB) in EDTA Vacutainer
(A sample of whole blood collected in an EDTA vacutainer is required for this test. EDTA acts as an anticoagulant to preserve the blood sample for DNA extraction.)
Preparation
No specific preparation is typically required for this genetic test. * No Fasting Required: Fasting is not necessary for this blood sample collection. * No Special Timing: Blood can be drawn at any ti... Read more
Schedule Report
25 Days
Emergency Report
Yes
Frequently Asked Questions
No data available
Test Description
- High-end laboratory & medical equipment.
- Outstanding doctor team.
- Personalized care & high-quality service.
- Tailormade health screening packages.