Ordering Guidance

This test is only intended to rule out whole-chromosome uniparental disomy (UPD). If testing is desired to rule out UPD 11 for Beckwith-Wiedemann syndrome or Russell-Silver syndrome, the recommended test is BWRS / Beckwith-Wiedemann Syndrome/Russell-Silver Syndrome, Molecular Analysis, Varies, as it will also detect cases caused by segmental UPD.

Shipping Instructions

Specimen preferred to arrive within 96 hours of collection.

Specimen Required

Specimens from both parents and the child or fetus are recommended for optimal interpretation of results. Each specimen must have a separate order for this test. Only the proband specimen will be charged.

Testing can be performed if only one parent specimen is submitted, however, biparental inheritance and some types of uniparental disomy (UPD) cannot be definitively established in the absence of one parent. Additionally, there is a higher likelihood for uninformative or inconclusive results. 

If all required specimens are not received within one month of ordering, testing will be canceled.

Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. For instructions for testing patients who have received a bone marrow transplant, call 800-533-1710.

Submit only 1 of the following specimens:

Specimen Type: Whole blood

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated

Prenatal Specimens

Due to its complexity, consultation with the laboratory is required for all prenatal testing; call 800-533-1710 to speak to a genetic counselor. 

Specimen Type: Amniotic fluid

Container/Tube: Amniotic fluid container

Specimen Volume: 20 mL

Specimen Stability Information: Refrigerated (preferred)/Ambient

Additional information: If amniotic fluid or culture amniotic fluid is received, CULAF / Culture for Genetic Testing, Amniotic Fluid will be added at an additional charge.

Specimen Type: Chorionic villi (CVS)

Container/Tube: 15-mL tube containing 15 mL of transport media

Specimen Volume: 20 mg

Specimen Stability Information: Refrigerated

Additional Information: If CVS or cultured CVS is received, CULFB / Fibroblast Culture for Biochemical or Molecular Testing will be added at an additional charge.

Acceptable:

Specimen Type: Confluent cultured cells

Container/Tube: T-25 flask

Specimen Volume: 2 Flasks

Collection Instructions: Submit confluent cultured cells from another laboratory.

Specimen Stability Information: Ambient (preferred)/Refrigerated (<24 hours)