Angelman syndrome (Methylation PCR)

Order Code:  333781

CPT Codes:  81331, G0452

Indication:  Carrier Screening; Clinical Diagnosis

Required Patient Information: Personal and Family History of clinical symptoms and/or previous test results (if any)

Turn Around Time: 7-14 days                           

Specimen type: Whole blood

Metholdology: Methylation pattern for the promoter region of the SNRPN gene will be used to determine presence or absence of the maternal and paternal alleles. This assay will detect about 68-82% of patients with Angelman Syndrome (AS).

 

Angelman syndrome (UBE3A sequencing)

Order Code: 333815

CPT Codes:  81406, G0452

Indication: Carrier Screening; Clinical Diagnosis; Prenatal Diagnosis

Required Patient Information: Personal and Family History of clinical symptoms and/or previous test results (if any); For prenatal testing: LMP date or gestational age at the time of sample collection

Turn Around Time:  21 days

Specimen type: Whole blood, amniotic fluid/cultured amniocytes

Methodology: Bidirectional sequencing analysis for all ten exons and the immediately flanking intronic sequences will be used to identify pathogenic variants within the coding region of UBE3A gene.  This assay will identify 5-11% of patients with Angelman syndrome.

Other Requirements: It is recommended that methylation PCR be ordered PRIOR to UBE3A sequencing.  A maternal blood sample is required for all prenatal specimens