Test Overview
Test Methodology

Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

Test Usage

Confirmation of a diagnosis of classic or variant Fabry disease in affected males with reduced alpha-Gal A enzyme activity. Carrier or diagnostic testing for asymptomatic or symptomatic females, respectively

Reference Range *

Interpretive report provided.

* Reference ranges may change over time. Please refer to the original patient report when evaluating results.

Test Details
Days Set Up
Varies
Analytic Time

15 - 22 days

Soft Order Code
MMLR
Synonyms
    Laboratory
    Sendout
    Reference Laboratory
    Mayo GLA
    Section
    Special Testing
    Specimen Requirements
    Collection Instructions

    Collect blood in a lavender or ACD tube. Send specimen as whole blood to Specimen Processing, ambient. Specimen preferred to be received by Mayo within 96 hours.
    Blood spot card must be allowed to dry in a horizontal position for 3 hours before sending to Specimen Processing. Do not expose to heat or direct sunlight.

    Alternate Specimen

    Any anticoagulant will be accepted

    Normal Volume

    3 mL

    Minimum Volume

    1 mL

    Additional Information

    Test sent to Mayo Clinic Laboratories.

    Billing
    CPT Code
    81405
    NY State Approved
    No