Test Catalog

Test ID: AHUSP    
Complement-Mediated Atypical Hemolytic-Uremic Syndrome (aHUS)/Thrombotic Microangiopathy (TMA) Gene Panel

Useful For Suggests clinical disorders or settings where the test may be helpful

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of complement-mediated HUS/atypical HUS (aHUS) or thrombotic microangiopathies (TMA)

 

Establishing a diagnosis and, in some cases, allowing for appropriate management and surveillance for disease features based on the gene involved

 

Identifying variants in genes encoding complement alternate pathway components and specific coagulation pathway genes known to be associated with increased risk for aHUS/TMA allowing for predictive testing of at-risk family members

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test includes next-generation sequencing and supplemental Sanger sequencing to evaluate for the genes listed on the panel.

Highlights

This test uses next-generation sequencing to test for variants in the ADAMTS13, C3, CD46 (MCP), CFB, CFD, CFH, CFHR1, CFHR3, CFHR5, CFI, DGKE, PLG, and THBD genes.

 

This test uses Sanger sequencing to test for variants in certain exons of the following genes:

PLG Exons 1, 4, and 19

CFH Exons 20-22

CFHR1 Exons 4

CFHR3 Exons 4 and 5

 

Identification of a pathogenic variant may assist with prognosis, clinical management, familial screening, and genetic counseling.

Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
FIBRFibroblast CultureYesNo
CRYOBCryopreserve for Biochem StudiesNoNo

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

For skin biopsy or cultured fibroblast specimens, fibroblast culture and cryopreservation testing will be performed at an additional charge. If viable cells are not obtained, the client will be notified.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

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

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Complement aHUS/TMA Gene Panel

Aliases Lists additional common names for a test, as an aid in searching

ADAMTS13
Atypical hemolytic uremic syndrome (aHUS)
C3
CD46 (MCP)
CFB
CFD
CFH
CFHR1
CFHR3
CFHR5
CFI
Complement factor B deficiency
Complement factor D deficiency
Complement factor H deficiency
Complement factor I deficiency
DGKE
Dysplasminogenemia
Familial thrombotic thrombocytopenic purpura
Nephrotic syndrome
Plasminogen deficiency
PLG
THBD
Thrombophilia
Primary Immunodeficiency
Next Gen Sequencing Test