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Genetic Labs

Houston, Texas

Genetic Laboratory
Medical 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.  If the mutation to be tested in this individual is one previousl
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.


Angelman Syndrome Methylation Analysis
Test Information: Confirmation of Clinical Diagnosis
Test Details
Test Code: 6006
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.diagnosis.
Technical Information
Methodology: Southern Blot Analysis
Gene Name: UBE3A
Protein Name: Ubiquitin-Protein Ligase E3A
Test Type: Methylation 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: 21 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81331x1


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