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Factor II and Factor V Leiden Panel
Clinical Genetic Test
Help
offered by
NxGen MDx
GTR Test Accession: Help GTR000570523.1
CAP
INHERITED DISEASEMETABOLIC DISEASEENDOCRINOLOGY ... View more
Registered in GTR: 2020-01-31
View version history
Last annual review date for the lab: 2024-07-15 LinkOut
At a Glance
Test purpose: Help
Screening
Conditions (6): Help
Congenital prothrombin deficiency; Alpha-1-antitrypsin deficiency; Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency more...
Genes (6): Help
CYP11B1 (8q24.3); CYP21A2 (6p21.33); DMD (Xp21.2-21.1); F2 (11p11.2); F5 (1q24.2) more...
Methods (3): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
NxGen MDx
View lab's website
Test Order Code: Help
FNM
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
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:
How to Order, Specimen source, Lab contact for this test, Contact policy, Test strategy
Conditions Help
Total conditions: 6
Condition/Phenotype Identifier
Test Targets
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 select exons
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
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
Designed coverage is achieved with ≥20 read depth in the DMD, F2, F5, CYP21A2l and SERPINA1 genes. This test has >99.9% sensitivity to substitution variants, and >99% sensitivity to small indels (up to 20bp) in all genes, and >99% sensitivity to known deletions and duplications in the DMD gene, and … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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