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Genetic Labs

Houston, Texas

Genetic Laboratory
Baylor Genetics Laboratories
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Medical Genetics Test Details

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Angelman Syndrome tests available.

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Methylation Analysis Angelman Syndrome Methylation Analysis
Test Code: 6006
Sequence Analysis UBE3A Sequence Analysis
Test Code: 6007

We recommend Angelman Syndrome Methylation analysis (test #6006) to rule out deletion, uniparental disomy, or imprinting effects prior to UBE3A sequence analysis. The use of the methylation assay is not recommended for fetal samples.  
UBE3A Sequence Analysis
Test Code: 6073

This test can only be performed if there is a previously identified familial mutation.
UBE3A Sequence Analysis
Test Code: 6072

We require that the referring center consult with our laboratory genetic counselors regarding prenatal cases prior to submitting any samples. Please call 1-800-411-4363.

UBE3A Sequence Analysis
Test Information: Confirmation of Clinical Diagnosis
Test Details
Test Code: 6007
Special Notes: The genetic basis of AS is heterogeneous. The majority of AS patients (80-84%) with the following types of genetic alterations will exhibit abnormal DNA methylation pattern showing only the paternally inherited allele using the methylation sensitive SNRPN probe (#6006). : 1) A deletion of the maternally contributed 15q11-q13 chromosome (~70% of AS patients; 2) Paternal uniparental disomy (UPD) (~3-5% of AS patients); and 3) An abnormality in the imprinting process which causes nonexpression of maternal genes in the AS critical region (~7-9% of AS patients). Patients with positive methylation results should have additional testing to delineate the specific mutation : microarray testing (#8655) to assess deletions/duplications and/or UPD 15 studies. For AS patients with normal methylation results, approximately 5-8% carry a point mutation in the UBE3A gene (#6007) . The other ~10-15% of AS patients have an unknown molecular etiology.
Technical Information
Methodology: Sequence analysis is performed in both forward and reverse directions
Gene Name: UBE3A
Protein Name: Ubiquitin-Protein Ligase E3A
Test Type: Sequence Analysis
Sample & Shipping Information
Test Requisition: Molecular Diagnostics
Specimen Type: Blood
Requirements: Draw blood in an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children) and 3 cc (Infant<2yrs).
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.

Turn Around Time: 28 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81406x1

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