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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 I/11 DELETION/DUPLICATION 2ND GENE
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General Information
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Lab Order Codes:
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EDSD2
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Synonyms:
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COL5A1; COL5A2; EDS
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CPT Codes:
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81407 – Molecular Pathology procedure, Level 8
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Test Includes:
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High Density Targeted Array of either COL5A1 or COL5A2 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 classical type of EDS includes EDS I and EDS II. They are autosomal dominant inherited disorders, and considered the most common types of EDS. Findings in EDS II (mitis type) are similar to, but less severe than, EDS I. The skin is less involved and joint laxity may be confined to hands and feet. Prematurity is not a feature. About 50% of the cases of classical EDS are caused by mutations in COL5A1 or COL5A2.
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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:
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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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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) and specify gene COL5A1 or COL5A2.
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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