AR Repeat Analysis for Spinal and Bulbar Muscular Atrophy/SBMA (Sendout)

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General Information

Lab Name
Lab Code
660
External Test Id
820
Description

Test Information: Using genomic DNA obtained from the submitted specimen, repeat analysis is performed via standard PCR fragment analysis to determine the number of repeats in each allele. Nucleotide repeat numbers up to 50 are reported with an accuracy of +/- 2 repeats and repeat numbers >50 are reported with an accuracy of +/- 5 repeats. The exact number of repeats cannot be determine for alleles with >75 repeats. Internal standards are analyzed along with clinical samples to evaluate assay performance. The largest recorded allele of 78 repeats can be analyzed accurately using this strategy alone. See AR Gene Analysis for Spinal and Bulbar Muscular Atrophy: Test Information Sheet for additional information.

    Ordering Requirements:

    • A completed GeneDx Neurology Test Requisition must accompany all orders. [Test #820, Spinal & Bulbar Muscular Atrophy (AR Repeat Analysis) is listed at the bottom of page 4 under "Neuromuscular Disorders."]
    Forms & Requisitions
    Synonyms
    820, AR, Kennedy Disease, Kennedy's Syndrome Androgen Receptor, SBMA X-Linked, Spinobulbar Muscular
    Components

    Interpretation

    Method

    PCR Fragment Analysis

    Reference Range
    Ref. Range Notes

    See report.

    Ordering & Collection

    Specimen Type
    Blood
    Collection

    5 mL blood in LAVENDER TOP (EDTA) tube

    Forms & Requisitions
    Handling Instructions

    Outside Laboratories: Transport whole blood at ambient temperature. A completed GenDx requisition is required.

    Stability: Ambient (preferred): 24 hours; Refrigerated: 7 days; Frozen: Unacceptable.

    Quantity
    Requested: 5 mL whole blood
    Minimum: 2 mL whole blood

    Processing

    Receiving Instructions

    Hold and transport samples at ambient temperature. Samples older than 24 hours should be refrigerated.

    Login: GSEND1-;ROOM TEMP

    • GSNDT1: GENEDX
    • GSTYP1: WB
    • GTSRQ1: ;AR Repeat Analysis (GeneDx Test 820)

    Sendouts:

    • GeneDx Test: 820.
    • Ship samples with completed GeneDx requisition at ambient temperature via FedEx Priority Overnight.
      • Samples should be refrigerated if not shipped the same day as collection.

    Stability: Ambient (preferred): 24 hours; Refrigerated: 7 days*; Frozen: Unacceptable.

    *Note: Blood specimens older than 7 days can still be sent to GeneDx; they will be tested if the yield and quality of DNA permit.

    Misc Sendout

    Performance

    Lab Department
    Frequency
    Turnaround Time: 3 weeks from sample receipt at GeneDx.
    Available STAT?
    No
    Performing Location(s)
    Sendout GeneDx, Inc.
    888-729-1206

    207 Perry Parkway
    Gaithersburg, MD 20877

    Billing & Coding

    Billing Comments

    CPT: 81204