Lab Test

Charcot Marie Tooth Disease Type 1A

Test Codes

CMT 1A, CMT1A

Instructions

This test is not included in the Beaumont Laboratory testing formulary, however, the Laboratory can facilitate specimen collection.

  • This test requires pathology review. Contact the Send Outs Laboratory at 248-551-9045 before ordering this test.
  • Testing requires the ordering physician to complete forms for the independent clinical laboratory performing the testing.
  • This test will be billed to the patient's insurance. If not covered by insurance, the patient is responsible for the full cost of testing.
  • Specimens received without the appropriate forms and information will not be shipped.
  • Once approved, order test as a Miscellaneous Send Outs (XMISC). 

Specimen Collection Criteria

Collect: Two Lavender-top EDTA tubes, after obtaining necessary pathology approval. (Minimum Whole Blood: 4.0 mL adult and children, 2.0 mL infants)

Physician Office/Draw Specimen Preparation

Do not centrifuge. Maintain whole blood at room temperature (20-26°C or 68-78.8°F) prior to transport. Pathology review and all appropriate forms must be completed prior to specimen transport.

Preparation for Courier Transport

Transport: 8 mL whole blood with all appropriate forms and information, at room temperature (20-26°C or 68-78.8°F). (Minimum: 4.0 mL adult and children, 2.0 mL infants)

Rejection Criteria

  • Specimens received without prior Laboratory notification and review.
  • Frozen specimens.
  • Specimens not collected and processed as indicated.
  • In-Lab Processing

    Do not centrifuge. Maintain whole blood at room temperature (20-26°C or 68-78.8°F) prior to transport.

    Transport: 8 mL whole blood with all appropriate forms and information, at room temperature (20-26°C or 68-78.8°F). (Minimum: 4.0 mL adult and children, 2.0 mL infants)

    Storage

    Specimen Stability for Testing:

    Room Temperature (20-26°C or 68-78.8°F): 7 days
    Refrigerated (2-8°C or 36-46°F): 7 days
    Frozen (-20°C/-4°F or below): Unacceptable

    Specimen Storage in Department Prior to Disposal:

    Specimen retention time is determined by the policy of the reference laboratory. Contact the Send Outs Laboratory with any questions.

    Laboratory

    Sent to GeneDx, Gaithersburg, MD.

    Performed

    Varies.
    Results available in 2-3 weeks.

    Reference Range

    By Report.

    Test Methodology

    Exon Array CGH.

    CPT Codes

    81448

    Contacts

    Last Updated

    4/10/2021

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