panel TTP (CFH, CFI, CFB, C3, MCP (CD46), MLPA CFH … see more panel TTP (CFH, CFI, CFB, C3, MCP (CD46), MLPA CFH operon, ADAMTS13)  see less
GTR Test Accession: Help GTR000567157.1
Last updated in GTR: 2019-04-15
Last annual review date for the lab: 2024-01-30 LinkOut
At a Glance
Hemolytic uremic syndrome, atypical, susceptibility to, 1; Atypical hemolytic-uremic syndrome with B factor anomaly; Atypical hemolytic-uremic syndrome with C3 anomaly; ...
Genes (6): Help
ADAMTS13 (9q34.2), C3 (19p13.3), CD46 (1q32.2), CFB (6p21.33), CFH (1q31.3), ...
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Patients with Thrombotic Thrombocytopenic Purpura (TTP)
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
How to Order: Help
See website
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
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: 6
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Genes Help
Total genes: 6
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
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
Target population: Help
Patients with Thrombotic Thrombocytopenic Purpura (TTP)
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
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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