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Vitamin k-dependent clotting factors, combined deficiency of, 1
Clinical Genetic Test
Help
offered by
Laboratory for Molecular Diagnostics
GTR Test Accession: Help GTR000314070.1
INHERITED DISEASEHEMATOLOGY
Registered in GTR: 2013-03-18
View version history
Last annual review date for the lab: 2024-10-02 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Screening
Conditions (1): Help
Vitamin K-dependent clotting factors, combined deficiency of, type 1
Genes (1): Help
GGCX (2p11.2)
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Laboratory for Molecular Diagnostics
View lab's website
Test short name: Help
VKCFD1
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
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:
Test Order Code, How to Order, Specimen source, Lab contact for this test, Test strategy, Test development
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
Bi-directional Sanger Sequence Analysis
Applied Biosystem Genetic Analyzer 3130 XL
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Screening
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, 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
The sensitivity of DNA sequencing is over 99% for the detection of nucleotide base changes, small deletions and insertions in the regions analyzed
View citations (1)
  • Mattocks CJ, Morris MA, Matthijs G, Swinnen E, Corveleyn A, Dequeker E, Müller CR, Pratt V, Wallace A, . A standardized framework for the validation and verification of clinical molecular genetic tests. Eur J Hum Genet. 2010;18(12):1276-88. doi:10.1038/ejhg.2010.101. Epub 2010 Jul 28. PMID: 20664632.
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, 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.