TFPI - Thrombophilia
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000528588.2
INHERITED DISEASEHEMATOLOGY
Last updated in GTR: 2017-10-13
Last annual review date for the lab: 2023-09-05 LinkOut
At a Glance
Diagnosis
Hereditary thrombophilia
Genes (1): Help
TFPI (2q32.1)
Molecular Genetics - Targeted variant analysis: SNP Detection
Not provided
Not provided
Not provided
Ordering Information
Lab contact: Help
Sergio Pena, PhD, MD, FRCP(C), Lab Director
sdpena@gmail.com
+55 3132848000
Ana Heller
Contact Policy: Help
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Genetic counseling
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
No
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 *
Targeted variant analysis
SNP Detection
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Technical Information
Test Comments: Help
SNP detection by Amplification-refractory mutation system (ARMS)
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
100% sensitive for the detection of C536T mutation
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

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.