Complement-mediated Renal disease panel
GTR Test Accession: Help GTR000522210.5
HEMATOLOGYIMMUNOLOGYSYNDROMIC DISEASE ... View more
Last updated in GTR: 2022-04-13
Last annual review date for the lab: 2024-05-22 LinkOut
At a Glance
Diagnosis; Predictive; Therapeutic management
Atypical hemolytic-uremic syndrome; Thrombotic microangiopathy
CFHR3-CFHR1 deletion
ADAMTS13 (9q34.2); C3 (19p13.3); CD46 (1q32.2); CFB (6p21.33); CFH (1q31.3) more...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Clinical Genomics Laboratory
View lab's website
View lab's test page
Specimen Source: Help
  • Buccal swab
  • Isolated DNA
  • Peripheral (whole) blood
Who can order: Help
  • Licensed Physician
  • Nurse Practitioner
Lab contact: Help
Meagan Corliss, Genetic Counselor
mcorliss@path.wustl.edu
314-747-7337
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
To order a test, complete and submit a requisition form that can be found on our website (gps.wustl.edu)
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Informed consent required: Help
Decline to answer
Test strategy: Help
In addition to sequencing, MLPA for the CFHR3-CFHR1 deletion is sent to an outside CAP/CLIA laboratory.
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Genes Help
Total genes: 13
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Predictive; Therapeutic management
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed both in-house and at an outside lab

Test performance comments
CFHR3-CFHR1 deletion testing by MLPA performed in an outside CAP/CLIA lab.
Analytical Validity: Help
The accuracy of SNV detection was assessed by comparison to the Complete Genomics gold standard variant set reported for HapMap sample NA19129 and to a high-confidence call sets generated from NA12878 and NA19240 at the McDonnell Genome Institute (Table 4). In all cases, positions queried are comprised of all exons … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Inter-Laboratory

PT Provider: Help
Inter-Laboratory
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
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.