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Lab Dept:
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Anatomic Pathology
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Test Name:
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EHLERS-DANLOS (EDS) TYPE IV DELETION/DUPLICATION
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General Information
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Lab Order Codes:
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EDS4D
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Synonyms:
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COL3A1; EDS IV Deletion/Duplication
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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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High Density Targeted Array of the COL3A1 gene.
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Logistics
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Test Indications:
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Ehlers-Danlos syndrome (EDS) is a connective tissue disorder composed of numerous subtypes with distinct genetic and clinical findings. In general, EDS is characterized by joint hypermobility, skin hyperextensibility and tissue fragility.
The vascular type, EDS IV, represents the most severe form of the disorder. Patients frequently suffer rupture of the arteries and intestines. The vascular type is an autosomal dominant disorder caused by mutations in COL3A1.
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Lab Testing Sections:
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Anatomic Pathology - Sendouts
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Referred to:
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CTGT
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Phone Numbers:
Minneapolis:
Saint Paul:
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612-813-6280
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651-220-6550
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Test Availability:
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Daily, 24 hours
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Turnaround Time:
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2 - 3 weeks
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Special Instructions:
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Request special forms for patient consent, physician signature and clinical history from Children’s Laboratory or print Request form here. Select (HDT Array) COL3A1.
Note: These completed forms must accompany the specimen or come with the patient when they present at the lab to be drawn.
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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 top (EDTA) tube
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Draw Volume:
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6 mL (Minimum: 4 mL) blood
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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 be sent in original collection container. Store and ship at refrigerated temperatures. Forward promptly.
Note: For specimens collected Friday – Sunday (or on a holiday), they should be held in Children’s Laboratories at refrigerated temperatures and shipped on Monday (or the next business day Monday – Thursday).
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Patient Preparation:
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None
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Sample Rejection:
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Mislabeled or unlabeled specimen; inappropriate specimen type; frozen specimens
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Interpretive
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Reference Range:
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No mutations detected
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Critical Values:
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N/A
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Limitations:
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N/A
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Methodology:
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High Density Targeted Array
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References:
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Connective Tissue Gene Tests March 2012
(484) 224-2900 Fax (484) 244-2904
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Updates:
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2/5/2013: CPT update
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