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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/TGFBR2) TYPE I & II SEQUENCING
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General Information
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Lab Order Codes:
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MAT12
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Synonyms:
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FBN1 and TGFBR2 gene analysis for Marfan’s syndrome
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CPT Codes:
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81408 – Molecular Pathology procedure, Level 9
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Test Includes:
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Testing for genes FBN1 & TGFBR2
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Logistics
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Test Indications:
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Fibrillin-1 is the major structural component of the microfibrils that link together the various extracellular matrix components in most connective tissues, thus providing support for the organs. Microfibrils can also associate with elastin, forming elastic fibers that provide resilience and elasticity in tissues. Defects in the FBN1 are related to Marfan Syndrome Type I, while defects in TGFBR2 are related to Marfan Syndrome Type II.
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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 Gene 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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2 to 3 months
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Special Instructions:
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No transfusions within the past 30 days. Please include completed CTGT Request form 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 to reach CTGT Monday through Friday. If weekend or holiday when drawn, store at refrigerated temperatures.
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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 these genes.
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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
(484) 244-2900 Fax (484) 244-2904
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Update:
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2/6/2013: CPT update
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