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3001635
Beckwith-Wiedemann Syndrome (BWS) and Russell-Silver Syndrome (RSS) by Methylation-Specific MLPA
BWS-RSS DD
Ordering Recommendation
Preferred initial diagnostic test for Beckwith-Weidemann syndrome (BWS) or Russell-Silver syndrome (RSS).
New York DOH Approval Status
Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.
Specimen Required
Patient Preparation
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A)
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL)
Storage/Transport Temperature
Refrigerated. Also acceptable: Ambient.
Unacceptable Conditions
Remarks
Stability
Ambient: 1 week; Refrigerated: 1 month; Frozen: Unacceptable
Methodology
Multiplex Ligation-Dependent Probe Amplification (MLPA)
Performed
Varies
Reported
12-14 days
Reference Interval
By report
Interpretive Data
Refer to report.
Compliance Category
Laboratory Developed Test (LDT)
Note
Hotline History
Hotline History
Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
N/A
CPT Codes
81401
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 3001636 | BWS-RSS Specimen | 31208-2 |
| 3001637 | Imprinting Center 1 Methylation | |
| 3001638 | Imprinting Center 2 Methylation | |
| 3001639 | Copy Number Analysis | |
| 3001640 | BWS-RSS Interpretation | 69047-9 |
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
- IC1
- IC2
- RSS
- Wilm's tumor
- BWSRSS
- H19-IGF2
- hemihyperplasia
- Silver-Russell syndrome
- SRS
- BWS
Beckwith-Wiedemann Syndrome (BWS) and Russell-Silver Syndrome (RSS) by Methylation-Specific MLPA
