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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
Clinical Genetic Test
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offered by
Translational Metabolic Laboratory
View lab's test page
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GTR Test Accession: Help GTR000567157.1
IMMUNOLOGYINHERITED DISEASEHEMATOLOGY ... View more
Last updated in GTR: 2019-04-15
View version history
Last annual review date for the lab: 2024-01-30 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (6): Help
Hemolytic uremic syndrome, atypical, susceptibility to, 1; Atypical hemolytic-uremic syndrome with B factor anomaly; Atypical hemolytic-uremic syndrome with C3 anomaly; ...
Chromosomal regions/ Mitochondria (1): Help
1q31.3
Genes (6): Help
ADAMTS13 (9q34.2), C3 (19p13.3), CD46 (1q32.2), CFB (6p21.33), CFH (1q31.3), ...
Methods (3): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Target population: Help
Patients with Thrombotic Thrombocytopenic Purpura (TTP)
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Translational Metabolic Laboratory
View lab's website
View lab's test page
Test Order Code: Help
panel-ttp-cfh-cfi-cfb-c3-mcp-cd46-mlpa-cfh-operon-adamts13
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:
Specimen source, Lab contact for this test, Contact policy, Test strategy
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
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 Thrombotic Thrombocytopenic Purpura (TTP)
Recommended fields not provided:
Clinical validity, Clinical utility, 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
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:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
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.