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Angelman and Prader-Willi Syndromes, DNA Analysis

CPT: 81331
Updated on 02/25/2020
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Synonyms

  • Prader-Willi and Angelman Syndromes, DNA Analysis
  • PWS Methylation Assay

Special Instructions

Please provide pertinent findings, family or personal, of intellectual disability, autistic behaviors, developmental delay, and obesity.

Please provide pertinent findings, family or personal, of mental retardation, autistic behaviors, developmental delay, and obesity. It is recommended that in addition to this methylation-based testing, high-resolution chromosome analysis be ordered (052215) in order to distinguish between the underlying mechanisms.

Please provide pertinent findings, family or personal, of intellectual disability, autistic behaviors, developmental delay, and obesity.


Expected Turnaround Time

7 - 14 days


Related Information


Specimen Requirements


Specimen

Whole blood, LabCorp buccal swab kit (buccal swab collection kit contains instructions for use of a buccal swab), amniotic fluid or cultured amniocytes. (Cultured cells are required for testing. Direct specimen can be submitted, but a culture fee may be included.) Note: Submission of maternal blood is required for fetal testing.


Volume

7 mL whole blood, 10 mL amniotic fluid, cultured amniocytes, or LabCorp buccal swab kit


Minimum Volume

3 mL whole blood, 5 mL amniotic fluid, cultured amniocytes, or two buccal swabs


Container

Lavender-top (EDTA) tube, yellow-top (ACD) tube, sterile plastic conical tube or two confluent T25 flasks for fetal testing, or LabCorp buccal swab kit


Storage Instructions

Maintain specimen at room temperature or refrigerate. Do not freeze.


Causes for Rejection

Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; one buccal swab; wet buccal swab


Test Details


Use

This test detects all major causes of the Prader-Willi and Angelman syndromes. Angelman syndrome (AS) (OMIM 105830) is characterized by severe developmental delay or intellectual disability, severe speech impairment, gait ataxia and/or jerking limb motions, and an inappropriate happy demeanor that includes frequent laughing, smiling, and excitability. Neonatal hypotonicity may also occur. Approximately 70% of AS patients have a deletion of 15q11-13 in the maternally contributed chromosome 15, with about 3% to 5% of AS cases resulting from paternal uniparental disomy (UPD). Approximately 11% of AS cases result from mutations in the maternal copy of the UBE3A gene that also maps to 15q11-13. An abnormality of the imprinting process occurs in a portion of the remaining patients.

Prader-Willi syndrome (PWS) (OMIM 176270) is caused by the loss of paternal gene expression in the 15q11-q13 region. The disease is characterized by diminished fetal activity, severe postnatal hypotonia, failure to thrive in infancy followed by hyperphagia, obesity, developmental delay, and hypogonadism. PWS may result from a microdeletion of paternal chromosome at 15q11-13 (70%), maternal UPD (25%), or from an imprinting defect.

Imprinting defects may be associated with a 50% recurrence risk, however, the risk is negligible for cases involving microdeletions or UPD. Consequently, etiological testing may be indicated. All test results must be combined with clinical information for the most accurate interpretation.

This test detects all major causes of the Prader-Willi and Angelman syndrome

This test detects all major causes of the Prader-Willi and Angelman syndromes. Angelman syndrome (AS) (OMIM 105830) is characterized by severe developmental delay or intellectual disability, severe speech impairment, gait ataxia and/or jerking limb motions, and an inappropriate happy demeanor that includes frequent laughing, smiling, and excitability. Neonatal hypotonicity may also occur. Approximately 70% of AS patients have a deletion of 15q11-13 in the maternally contributed chromosome 15, with about 3% to 5% of AS cases resulting from paternal uniparental disomy (UPD). Approximately 11% of AS cases result from mutations in the maternal copy of the UBE3A gene that also maps to 15q11-13. An abnormality of the imprinting process occurs in a portion of the remaining patients.

Prader-Willi syndrome (PWS) (OMIM 176270) is caused by the loss of paternal gene expression in the 15q11-q13 region. The disease is characterized by diminished fetal activity, severe postnatal hypotonia, failure to thrive in infancy followed by hyperphagia, obesity, developmental delay, and hypogonadism. PWS may result from a microdeletion of paternal chromosome at 15q11-13 (70%), maternal UPD (25%), or from an imprinting defect.

Imprinting defects may be associated with a 50% recurrence risk, however, the risk is negligible for cases involving microdeletions or UPD. Consequently, etiological testing may be indicated. All test results must be combined with clinical information for the most accurate interpretation.


Limitations

Approximately 11% of Angelman syndrome cases arising from UBE3A mutations will not be detected by this test.

This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.

Approximately 11% of Angelman syndrome cases arising from UBE3A mutations will not be detected by this test.

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Approximately 11% of Angelman syndrome cases arising from UBE3A mutations will not be detected by this test.

This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.


Methodology

Methylation-specific PCR and gel electrophoresis


References

Diagnostic testing for Prader-Willi and Angelman syndromes: Report of the ASHG/ACMG Test and Technology Transfer Committee. Am J Hum Genet. 1996 May; 58(5):1085-1088. 8651269
Glenn CC, Porter KA, Jong MT, Nicholls RD, Driscoll DJ. Functional imprinting and epigenetic modification of the human SNRPN gene. Hum Mol Genet. 1993 Dec; 2(12):2001-2005. 8111367
Kubota T, Das S, Christian SL, Baylin SB, Herman JG, Ledbetter DH. Methylation-specific PCR simplifies imprinting analysis. Nat Genet. 1997 May; 16(1):16-17. 9140389
Wevrick R, Francke U. Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood. Lancet. 1996 Oct 19; 348(9034):1068-1069. 8874459
Zeschnigk M, Lich C, Buiting K, Doerfler W, Horsthemke B. A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus. Eur J Hum Genet. 1997 Mar-Apr; 5(2):94-98. 9195159

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
511210 Angelman/PWS Methylation Assay 41117-3 511211 Angelman/PWS Methylation Assay 41117-3
511210 Angelman/PWS Methylation Assay 41117-3 511941 PDF 51969-4

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