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Lab Dept:
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Anatomic Pathology
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Test Name:
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COL2A1 GENE SEQUENCING
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General Information
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Lab Order Codes:
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C2A1
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Synonyms:
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Achondrogenesis, Type II (ACG2)/ACG1B; Avascular Necrosis of Femoral Head, Primary (ANFH); Kniest Dysplasia; Osteoarthritis with mild chondrodysplasia; Platyspondylic Lethal Skeletal Dysplasia, Torrence Type (PLSDT); Stickler Type 1 (STL1); Spondyloepimetaphyseal Dysplasia, Studwick Type (SEMD); Spondyloperipheral Dysplasia; Spondyloepiphyseal Dysplasia Congenital (SEDc)
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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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Direct DNA sequencing of PCR products generated from genomic DNA, sequencing of exons and exon-intron boundaries, point mutations, splice site mutations and small exonic deletions, insertions and indels.
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Logistics
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Test Indications:
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For confirmation of symptoms and the clinical diagnosis related to Achondrogenesis, Type II (ACG2)/ACG1B; Avascular Necrosis of Femoral Head, Primary (ANFH); Kniest Dysplasia; Osteoarthritis with mild chondrodysplasia; Platyspondylic Lethal Skeletal Dysplasia, Torrence Type (PLSDT); Stickler Type 1 (STL1); Spondyloepimetaphyseal Dysplasia, Studwick Type (SEMD); Spondyloperipheral Dysplasia; or Spondyloepiphyseal Dysplasia Congenital (SEDc).
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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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Daily, 24 hours
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Turnaround Time:
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1 – 2 weeks
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Special Instructions:
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Please include a 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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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. Send via overnight shipping with a cold pack to reach CTGT Monday through Friday. If weekend or holiday when drawn, store at refrigerated temperatures. Please include a CTGT Shipment Packing Slip with the shipment.
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Patient Preparation:
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None
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Sample Rejection:
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Mislabled or unlabeled specimen
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Interpretive
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Reference Range:
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Interpretive report
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Critical Values:
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N/A
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Limitations:
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Published estimates of test sensitivity for genes linked to certain disorders can be very inaccurate, and that it is difficult to predict the probability of detecting a mutation in any single gene for one individual. The following factors contribute to this challenge: Many disorders have overlapping phenotypes; some disorders are linked to mutations in more than one gene; in some instances genes remain to be linked to specific disorders; for most disorders, proper diagnosis requires that clinical findings are considered along with genetic findings.
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Methodology:
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DNA sequencing
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References:
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Connective Tissue Gene Tests October 2010
(484) 224-2900 Fax (484) 244-2904
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Updates:
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1/13/2013: CPT 2013 updates
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