aHUS Genetic Panel aHUS

Synonyms

Allscripts (AEHR) Order Name

aHUS Genetic Panel

Sunrise Clinical Manager (SCM) Order Name

aHUS Genetic Panel

EPIC Order Name

Atypical Hemolytic Uremic Syndrome (AHUS) Genetic Panel

Clinical Info

The clinical presentation of thrombotic microangiopathy (TMA) has been associated with 
multiple genetic disease including atypical hemolytic uremic syndrome (aHUS), thrombotic 
thrombocytopenic purpura (TTP), C3 glomerulopathy (C3G, comprising dense deposit 
disease and C3 glomerulonephritis), congenital B12 deficiency and others. 
               *  NYS Consent required  *   See attached for Requisition and Consent

Specimen Type

Blood

Specimen Volume

3 mL Whole Blood ( 1 mL min)

Container

Lavender Top Tube or Cheek Swab

Collection Instructions

Container/Tube:  Lavender Top Tube  or 
                            Cheek Swab
Specimen: 3 mL whole Blood ( 1mL min)
                  2 Cheek Swabs  

Transport Instructions

Refrigerated

Specimen Stability

30 Days Room Temperature
30 Days Refrigerated

Methodology

Next Generation Sequencing

Days Performed

TAT :5-7 Days

Performing Laboratory

Machaon Diagnostics

CPT

81404
81405
81479
LOINC COde  99967-2

PDM

245567

Result Interpretation

Interpretation: Negative

LIMITATIONS This test will not detect variants located outside of the targeted DNA regions. This test is not optimized to detect chimerism or somatic mosaicism. This test will detect small indels but may miss larger deletions or duplications. Balanced structural variants will not be detected unless specifically targeted by a custom PCR assay.

Forms

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