panel atypical HUS (CFH, CFI, CFB, C3, MCP (CD46), MLPA … see more panel atypical HUS (CFH, CFI, CFB, C3, MCP (CD46), MLPA CFH operon)  see less
GTR Test Accession: Help GTR000566949.1
INHERITED DISEASEIMMUNOLOGYHEMATOLOGY ... View more
Registered in GTR: 2019-04-15
Last annual review date for the lab: 2024-01-30 LinkOut
At a Glance
Diagnosis
Hemolytic uremic syndrome, atypical, susceptibility to, 1; Atypical hemolytic-uremic syndrome with B factor anomaly; Atypical hemolytic-uremic syndrome with C3 anomaly more...
Genes (5): Help
C3 (19p13.3); CD46 (1q32.2); CFB (6p21.33); CFH (1q31.3); CFI (4q25)
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Patients with atypical hemolytic uremic syndrome (aHUS)
Not provided
Not provided
Ordering Information
Offered by: Help
Translational Metabolic Laboratory
View lab's website
View lab's test page
Test Order Code: Help
panel-atypical-hus-cfh-cfi-cfb-c3-mcp-cd46-mlpa-cfh-operon
How to Order: Help
See website
Order URL
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
Decline to answer
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: 5
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Genes Help
Total genes: 5
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 3
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Patients with atypical hemolytic uremic syndrome (aHUS)
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
With bidirectional Sanger sequencing, we have over 99.99% accuracy. With NGS, accuracy is over 99.8%. Mutation detection reproducibility is consistently reliable at 100%.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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