Test for ADAMTS13-Related Atypical Hemolytic Uremic Syndrome
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000531694.3
INHERITED DISEASEINHERITED DISEASE SUSCEPTIBILITY
Last updated in GTR: 2019-07-09
Last annual review date for the lab: 2023-08-04 Past due LinkOut
At a Glance
Diagnosis; Mutation Confirmation
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Genes (1): Help
ADAMTS13 (9q34.2)
Molecular Genetics - Sequence analysis of the entire coding region: Next Generation Sequencing (NGS)
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Specimen Source: Help
  • Isolated DNA
  • Peripheral (whole) blood
  • Saliva
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Public Health Mandate
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.
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: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
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 Sequencing (NGS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Recommended fields not provided:
Technical Information
Test Platform:
ILLUMINA
Availability: Help
Tests performed
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed in-house
Analytical Validity: Help
Combination of NGS, Sanger re-sequencing provides 100% sensitivity.
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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