skip to content »

Genetic Labs

Houston, Texas

Genetic Laboratory
Medical Genetics Laboratories
not shown on screen

Medical Genetics Test Details

View Custom Req   |    Tests in Custom Req: 0
Search Tests: (Search by disease, test name, gene name, test code, or keyword. Return to test index.)

    Browse:  # A B C D E F G H I J K L M N O P Q R S T U V W X Y Z



FISH Analysis - Angelman Syndrome Panel
Test Information: Confirmation of Clinical Diagnosis, FISH may also be indicated when methylation studies have shown only an unmethylated contribution to further characterize the cause of Angelman syndrome in these patients.
Test Details
Test Code: 8459
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: Fluorescent in Situ Hybridization (FISH) Analysis
Gene Name: UBE3A
Protein Name: Ubiquitin-Protein Ligase E3A
Sample & Shipping Information
Test Requisition: Cytogenetics
Specimen Type: Blood
Requirements: Draw blood in a Sodium Heparin (green-top) tube(s) and send 3-5 cc (Adults/Children) or 1-2 cc (Infant< 2 years).
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Specimen should arrive in the laboratory within 48 hrs of collection. Do not heat or freeze.

Turn Around Time: 14 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 88230x1, 88273x1, 88271x1, 88291x1


Return to test index