Uniparental Disomy (UPD), DNA Analysis

CPT: 81402
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Test Details

Use

Establish the parent of origin for syndromes that may result from single-parent inheritance of both homologues of a specific chromosome pair. The best examples of this are Prader-Willi and Angelman syndromes in which maternal and paternal uniparental disomy (for chromosome 15), respectively, are reported. Other examples include Russell-Silver syndrome (chromosome 7) and Beckwith-Wiedemann syndrome (chromosome 11).

Limitations

This procedure may be considered by Medicare and other carriers as investigational and, therefore, may not be payable as a covered benefit for patients.

Methodology

Analysis of VNTRs and AMPFLPs by polymerase chain reaction (PCR) and gel electrophoresis

Specimen Requirements

Specimen

Whole blood or amniotic fluid

Volume

7 mL whole blood or 10 mL amniotic fluid or amniocyte culture

Minimum Volume

3 mL whole blood or 5 mL amniotic fluid or amniocyte culture

Container

Lavender-top (EDTA) tube, green-top (heparin) tube, yellow-top (ACD) tube, sterile plastic conical tube or two confluent T-25 flasks for fetal testing

Storage Instructions

Maintain specimen at room temperature. Do not freeze.

Causes for Rejection

Frozen specimen; hemolysis; improper container

Clinical Information

Special Instructions

A separate test request form must be completed for each family member for whom a specimen is submitted. The patient's name, age, and relevant clinical and family history should be included on the corresponding test request form. Please include chromosome pair to be studied. Blood specimens from both parents should be submitted, although a specimen from one parent may be sufficient in some cases.

References

Shaffer LG, Agan N, Goldberg JD, Ledbetter DH, Longshore JW, Cassidy SB. American College of Medical Genetics statement on diagnostic testing for uniparental disomy. Genet Med. 2001 May-Jun; 3(3):206-211. 11388763

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
470054 Uniparental Disomy (UPD) 36917-3 470055 Uniparental Disomy 36917-3

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