Sign in →

Test ID AHUGP Atypical Hemolytic Uremic Syndrome (aHUS)/Thrombotic Microangiopathy (TMA) /Complement 3 Glomerulopathy (C3G) Gene Panel, Varies


Ordering Guidance


Due to atypical hemolytic uremic syndrome genotype-phenotype complexity, targeted testing for familial variants will not be accepted without approval from the laboratory; call 800-533-1710 to discuss testing options with a genetic counselor.

 

Customization of this panel and single gene analysis for any gene present on this panel are available. For more information, see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies



Shipping Instructions


Specimen preferred to arrive within 96 hours of collection.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

 

Submit only 1 of the following specimens:

 

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated

 

Specimen Type: Skin biopsy

Supplies: Fibroblast Biopsy Transport Media (T115)

Container/Tube: Sterile container with any standard cell culture media (eg, minimal essential media, RPMI 1640). The solution should be supplemented with 1% penicillin and streptomycin. Tubes of culture media can be supplied upon request (Eagle's minimum essential medium with 1% penicillin and streptomycin).

Specimen Volume: 4-mm punch 

Specimen Stability Information: Refrigerated (preferred)/Ambient

Additional Information: A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing, Tissue. An additional 3 to 4 weeks is required to culture fibroblasts before genetic testing can occur.

 

Specimen Type: Cultured fibroblasts

Container/Tube: T-25 flask

Specimen Volume: 2 Flasks

Collection Instructions: Submit confluent cultured fibroblast cells from a skin biopsy from another laboratory. Cultured cells from a prenatal specimen will not be accepted.

Specimen Stability Information: Ambient (preferred)/Refrigerated (<24 hours)

Additional Information: A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing, Tissue. An additional 3 to 4 weeks is required to culture fibroblasts before genetic testing can occur.


Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Hereditary Renal Genetic Testing Patient Information (T918)

3. If not ordering electronically, complete, print, and send a Renal Diagnostics Test Request (T830) with the specimen.

Useful For

Providing a genetic evaluation for patients with a personal or family history suggestive of atypical hemolytic uremic syndrome (aHUS), thrombotic microangiopathy (TMA), or complement 3 glomerulopathy (C3G)

 

Establishing a diagnosis of genetic aHUS, TMA, or C3G 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, and C3G allowing for predictive testing of at-risk family members

 

Providing genetic information that may be considered when making treatment decisions, including duration of therapy and recurrence risk, as well as consideration of transplantation

Genetics Test Information

This test utilizes next-generation sequencing to detect single nucleotide, small deletion-insertion, and copy number variants in 15 genes associated with atypical hemolytic uremic syndrome (aHUS), thrombotic microangiopathy (TMA), and complement 3 glomerulopathy (C3G): ADAMTS13, C3, C5[Chr9(GRCh37):g.123759950-123759973 only], CD46 (MCP), CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, DGKE, MMACHC, and THBD. See Targeted Genes and Methodology Details for Atypical Hemolytic Uremic Syndrome / Thrombotic Microangiopathy / Complement 3 Glomerulopathy Gene Panel in Method Description for additional details.

 

Identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for aHUS, TMA, and C3G.

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
CULFB Fibroblast Culture for Genetic Test Yes No

Testing Algorithm

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

Method Name

Sequence Capture and Amplicon-Based Next-Generation Sequencing (NGS)

Reporting Name

aHUS/TMA/C3G Gene Panel

Specimen Type

Varies

Specimen Minimum Volume

Blood: 1 mL; Skin biopsy or cultured fibroblasts: See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reference Values

An interpretive report will be provided.

Day(s) Performed

Varies

Report Available

28 to 42 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

81404
81479
81479 (if appropriate for government payers) 

LOINC Code Information

Test ID Test Order Name Order LOINC Value
AHUGP aHUS/TMA/C3G Gene Panel 99967-2

 

Result ID Test Result Name Result LOINC Value
618017 Test Description 62364-5
618018 Specimen 31208-2
618019 Source 31208-2
618020 Result Summary 50397-9
618021 Result 82939-0
618022 Interpretation 69047-9
618023 Additional Results 82939-0
618024 Resources 99622-3
618025 Additional Information 48767-8
618026 Method 85069-3
618027 Genes Analyzed 48018-6
618028 Disclaimer 62364-5
618029 Released By 18771-6

NY State Approved

Yes