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Lab Dept:
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Anatomic Pathology
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Test Name:
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TUBEROUS SCLEROSIS (TSC1) KNOWN MUTATION
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General Information
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Lab Order Codes:
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TSC1K
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Synonyms:
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TSC Familial Mutation Evaluation (Known Mutation Analysis)
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CPT Codes:
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81403 – Known familial variant, not otherwise specified, for gene listed in Tier 1 or Tier 2, DNA sequence analysis, each variant exon
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Test Includes:
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Detects a single sequence variation in TSC1 based on proband’s mutation
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Logistics
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Test Indications:
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Any combination of seizures, developmental delay, skin lesions, cortical tubers and hamartomas in various parts of the body.
Family member testing to be used when the proband’s mutation has been established by previous testing.
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Lab Testing Sections:
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Anatomic Pathology - Sendouts
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Referred to:
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Prevention Genetics (Test: 100)
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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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Maximum of 40 days, although many reported in 2-3 weeks
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Special Instructions:
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A test requisition must be sent with all specimens. Forms can be obtained through the following link: http://preventiongenetics.com/clinical-dna-testing/requisition-forms/
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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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2-5 mL (Minimum: 1 mL for small babies) blood
Note: 5 mL preferred
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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 for blood specimens, invert gently to mix
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Special Processing:
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Lab Staff: Do Not centrifuge. Send whole blood in original collection container labeled with patient name, date of birth and medical record number and Prevention requisition filled out by provider. Ship specimens at room temperature in an insulated container.
During hot weather, include a frozen ice pack in the shipping container. Place a paper towel or other thin material between the ice pack and the blood tube.
In cold weather, include an unfrozen ice pack in the shipping container as insulation.
Send specimens Monday – Friday by overnight delivery. Specimens are accepted Monday – Saturday. Specimens collected Saturday and Sunday should be stored in the refrigerator and shipped on Monday or the next business day.
Note: Refrigerated specimens are stable for 1 week, room temperature specimens are stable for 48 hours.
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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; frozen specimens
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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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N/A
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Methodology:
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Polymerase Chain Reaction (PCR) and Sanger sequencing
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References:
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Prevention Genetics March 2013
Phone: 715-387-0484 Fax: 715-384-3661
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Updates:
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2/11/2013: CPT update
3/5/2013: Test moved from Boston University to Prevention Genetics
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