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Lab Dept:
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Anatomic Pathology
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Test Name:
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MARFAN SYNDROME (FBN1) KNOWN MUTATION
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General Information
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Lab Order Codes:
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MKM
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Synonyms:
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FBN1 Fibrillin-1 gene analysis for Marfan’s syndrome
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CPT Codes:
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81403 – Molecular Pathology procedure, Level 4
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Test Includes:
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Testing for FBN1 gene.
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Logistics
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Test Indications:
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This test is for family members of an affected individual who has already been tested by CTGT.
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Lab Testing Sections:
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Anatomic Pathology - Sendouts
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Referred to:
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Connective Tissue Genetics Tests (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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24 hours
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Turnaround Time:
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4 weeks
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Special Instructions:
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A completed CTGT request form must be sent with the patient or specimen to the laboratory
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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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9 mL (Minimum: 6 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, mix specimen by gentle inversion
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Special Processing:
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Lab Staff: Do Not centrifuge. Specimen should be sent in original collection container. Send via overnight shipping with a cold pack. Specimens drawn on weekends or holidays should be stored at refrigerated temperatures until specimen can be shipped to arrive Monday through Friday.
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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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No mutations detected
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Critical Values:
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N/A
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Limitations:
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The technology does not detect all possible mutations in this gene.
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Methodology:
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PCR amplification, gel electrophoresis
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References:
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Connective Tissue Gene Tests April 2006
(301) 519-2100 Fax (301) 519-2892
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Updates:
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2/6/2013: CPT update
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