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Lab Dept:
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Anatomic Pathology
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Test Name:
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RUBENSTEIN TAYBI SYNDROME (CREBBP & EP300) COMPREHENSIVE SEQUENCING
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General Information
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Lab Order Codes:
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RTS
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Synonyms:
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RTS Broad Thumb ; Rubenstein-Taybi Syndrome, Comprehensive; Hallux Syndrome
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CPT Codes:
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81479 – Molecular Pathology Unlisted procedure
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Test Includes:
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An interpretive report will be provided.
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Logistics
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Test Indications:
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Mutations in the CREBBP gene cause Rubinstein-Taybi syndrome. The CREBBP gene makes a protein that helps control the activity of many other genes. The protein, called CREB binding protein, plays an important role in regulation cell growth and division and is essential for normal fetal development. If one copy of the CREBBP gene is deleted or mutated, cells make only half of the normal amount of CREB binding protein. A reduction in the amount of this protein disrupts normal development before and after birth, leading to the sign and symptoms of Rubinstein-Taybi syndrome. Mutations in the EP300 gene are responsible for a small percentage of cases of Rubenstein-Taybi syndrome. These mutations result in the loss of one copy of the gene in each cell, which reduces the amount of p300 protein by half. Some mutations lead to the production of a very short, nonfunctional version of the p300 protein, while others prevent one copy of the gene from making any protein at all. Although researchers do not know how a reduction in the amount of p300 protein leads to the specific features of Rubinstein-Taybi syndrome, it is clear that the loss of one copy of the EP300 gene disrupts normal development.
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Lab Testing Sections:
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Anatomic Pathology – Sendouts
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Referred to:
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University of Colorado Denver DNA Diagnostics Lab
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Phone Numbers:
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MIN Lab: 612-813-6280
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STP Lab: 651-220-6550
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Test Availability:
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Monday – Thursday Only
Note: Specimens should be received in the UCD DNA Diagnostic Laboratory within 72 hours of collection if possible. The laboratory is closed on Saturdays and Sundays. Ideally, specimens should be collected and shipped early in the week to avoid delivery on a weekend.
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Turnaround Time:
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2 - 4 weeks
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Special Instructions:
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Restricted draw times. See Test Availability. Specimens received without a
requisition including signed consent are held after DNA extraction. Tests that are cancelled after DNA extraction will be charged $75.00.
Requisition and Consent forms can be printed from this link.
Parental samples are performed free of charge when sent with child's sample. Parental samples must also be accompanied a requisition and signed consent form.
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Specimen
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Specimen Type:
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Whole Blood
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Container:
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Lavender (EDTA) top tube
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Draw Volume:
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5 mL (Minimum: 2 mL) EDTA whole blood
Newborns: 1 mL will be accepted
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Processed Volume:
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Same as Draw Volume
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Collection:
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Routine venipuncture
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Special Processing:
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Lab Staff: Do not centrifuge, specimen should remain in original collection container. Specimen must be received by reference lab within 72 hours. Lab is closed Saturday and Sunday and on certain holidays. Store at room temperature and ship promptly by overnight delivery.
Ship to: UCD DNA Diagnostic Laboratory
Room P18-4404K
12800 East 19th Avenue
Aurora, CO 80045
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Patient Preparation:
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None
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Sample Rejection:
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Mislabeled or unlabeled specimens
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Interpretive
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Reference Range:
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An interpretive report will be provided
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Critical Values:
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N/A
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Limitations:
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Transfusions of whole blood prior to peripheral blood collection may result in an inconclusive interpretation
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Methodology:
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DNA extraction and gene sequencing
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References:
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University of Colorado Denver DNA Diagnostics Laboratory January 2011
Phone: 303-724-3801
Fax: 303-724-3802
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Updates:
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2/11/2013: CPT update
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