Classic view of this page
aHUS/DDD Genetic Evaluation
Clinical Genetic Test
Help
offered by
Versiti Diagnostic Laboratories
View lab's test page
LinkOut
GTR Test Accession: Help GTR000521872.11
NYS CLEP
CAP
IMMUNOLOGYINHERITED DISEASEINHERITED DISEASE SUSCEPTIBILITY ... View more
Last updated in GTR: 2024-09-03
View version history
Last annual review date for the lab: 2023-06-08 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment
Conditions (3): Help
Hemolytic uremic syndrome, atypical, susceptibility to, 1; Atypical hemolytic-uremic syndrome; Mesangiocapillary glomerulonephritis, type II
Genes (14): Help
ADAMTS13 (9q34.2); C3 (19p13.3); C4BPA (1q32.2); C4BPB (1q32.1); CD46 (1q32.2) more...
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis; Predictive risk information for patient and/or family members
Ordering Information
Offered by: Help
Versiti Diagnostic Laboratories
View lab's website
View lab's test page
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Bone marrow
  • Buccal swab
  • Chorionic villi
  • Cord blood
  • Isolated DNA
  • Peripheral (whole) blood
  • White blood cell prep
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
Test Order Code: Help
1200
View other test codes
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

Lab contact: Help
Stefanie Dugan, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
SDugan@Versiti.org
(414) 937-6126
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    OrderCode: 1200
Genetic counseling
Result interpretation
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test strategy
Conditions Help
Total conditions: 3
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 14
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)

Predictive risk information for patient and/or family members
View citations (1)

Recommended fields not provided:
Clinical validity, Target population, What is the protocol for interpreting a variation as a VUS?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Comments: Help
Atypical hemolytic uremic syndrome (aHUS) is a disease characterized by non-immune hemolytic anemia, thrombocytopenia, and organ dysfunction, especially renal impairment. Many cases of aHUS are caused by uncontrolled activation of the complement system; both familial and sporadic forms of aHUS can be caused by complement-related genetic variants. Loss of function … View more
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity is >99%.
Assay limitations: Help
This test detects all pathogenic aHUS variants reported in the literature to date in the genes listed above with the exception of CFHR4 copy number variants (<1% of cases). Copy number variants in the genes/exons not covered by MLPA will not be detected. A negative result does not exclude a … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Test Confirmation, Citations to support assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
NYS CLEP Approval: Help
Number: 45653
Status: Approved
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.