Inpatient and Outpatient Orderable
Beckwith-Wiedemann Syndrome (BWS)/Russell-Silver Syndrome (RSS)
Synonyms
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- BECKWITH-WIEDEMANN SYNDROME/RUSSELL-SILVER SYND
- BECKWITH-WIEDEMANN SYNDROME/RUSSELL-SILVER SYNDROME, MOLECULAR ANALYSIS, VARIES
- BECKWITH-WIEDEMANN/RUSSELL-SILVER
- BWRS
- BWRS-BECKWITH WIEDEMANN SYNDROME/RUSSELL
- LAB12478
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Cerner Name
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Beckwith-Wiedemann/Russell-Silver
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Clinical Info
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Confirming a clinical diagnosis of Beckwith-Wiedemann syndrome (BWS) or Russell-Silver syndrome (RSS)
Prenatal diagnosis if there is a high suspicion of BWS/RSS based on ultrasound findings or in families at risk for BWS/RSS.
This test does not detect maternal uniparental disomy of chromosome 7 or cytogenetic abnormalities such as translocations or inversions.
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Specimen Sources
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Blood, Arterial
Blood, Capillary
Blood, Central Line
Blood, Venous
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Specimen Types
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Blood
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Container
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Varies
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Collection Instructions
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Specimen Type: Whole blood
Container/Tube: Lavender top (EDTA) or yellow top (ACD)
Specimen Volume: 3 mL
Specimen Type: Cord blood
Container/Tube: Lavender top (EDTA) or yellow top (ACD)
Specimen Volume: 3 mL
Specimen Type: Cultured fibroblasts
Source: Skin
Container/Tube: T-25 flask
Specimen Volume: 2 Flasks
Collection Instructions: Submit confluent cultured fibroblast cells from a skin biopsy.
Specimen Type: Tissue biopsy
Supplies: Hank's Solution (T132)
Container/Tube: Sterile container with sterile Hank's balanced salt solution, Ringer's solution, or normal saline
Specimen Volume: 0.5 to 3 cm(3) or larger
Specimen Type: Extracted DNA
Container/Tube:
Preferred: Screw Cap Micro Tube, 2mL with skirted conical base
Acceptable: Matrix tube, 1mL
Collection Instructions:
1. The preferred volume is at least 100 mcL at a concentration of 75 ng/mcL.
2. Include concentration and volume on tube.
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Specimen Volume
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Varies
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Transport Instructions
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Varies
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Specimen Stability
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Specimen Stability Information:
Whole Blood and Cord Blood: Ambient (preferred) 4 days/Refrigerated 4 days/Frozen 4 days
Cultured Fibroblasts: Ambient (preferred) <24 hours/Refrigerated <24 hours
Tissue Biopsy: Ambient (preferred) <24 hours/Refrigerated <24 hours
Extracted DNA: Frozen (preferred) 1 year/Ambient/Refrigerated
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Methodology
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Multiplex Ligation-Dependent Probe Amplification (MLPA)
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Days Performed
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TAT: 11-15 Days
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Performing Laboratory
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Mayo Medical Laboratories
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CPT
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81401-H19
81401-KCNQ1OT1(KCNQ1)
21265
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PDM
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225534
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Only Orderable at Locations:
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Orderable Everywhere
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Results
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| Component Name |
Base Name |
Common Name |
External Name |
| BWRS RESULT SUMMARY |
BWRSRESSUM |
BWRS RESULT SUMMARY |
BWRS Result Summary |
| BWRS RESULT |
BWRSRES |
BWRS RESULT |
BWRS Result |
| BWRS INTERPRETATION |
BWRSINT |
BWRS INTERPRETATION |
BWRS Interpretation |
| BWRS REFERRAL REASON |
BWRSREF |
BWRS REFERRAL REASON |
BWRS Reason for Referral |
| BWRS SPECIMEN |
BWRSSPEC |
BWRS SPECIMEN |
BWRS Specimen |
| BWRS SOURCE |
BWRSSRC |
BWRS SOURCE |
BWRS Source |
| BWRS RELEASE |
BWRSREL |
BWRS RELEASE |
BWRS Released By |
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Result Interpretation
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Forms
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LAB12478
