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

New York State Clients: Preferred Ambient: 4 days; Refrigerated: 4 days; Frozen: 4 days
Specimens are preferred to be received within 4 days of collection. Extraction will be attempted for specimens received after 4 days, and DNA yield will be evaluated to determine if testing may proceed.

Methodology

  Qualitative Methylation-Specific Multiplex Ligation-Dependent Probe Amplification (MS-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

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