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Factor VIII (F8) Gene Sequencing With Inversion and Deletion/Duplication (NGS, … see more Factor VIII (F8) Gene Sequencing With Inversion and Deletion/Duplication (NGS, IS-PCR, MLPA) (2 Day STAT TAT)  see less
Clinical Genetic Test
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offered by
Machaon Diagnostics
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GTR Test Accession: Help GTR000592971.3
CAP
HEMATOLOGYINHERITED DISEASE
Last updated in GTR: 2023-04-07
View version history
Last annual review date for the lab: 2025-05-13 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Hereditary factor VIII deficiency disease
Genes (1): Help
F8 (Xq28)
Methods (3): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Target population: Help
Not provided
Clinical validity: Help
In Hemophilia A, aside from the inversions which make up …
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Machaon Diagnostics
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
P3373
View other test codes
How to Order: Help
Please visit lab website for details. Inquire about functional confirmation testing.
Order URL
Test service: Help
Custom Balanced Chromosome Rearrangement Studies
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Result interpretation
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:
Lab contact for this test, Contact policy, Test strategy
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: 3
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Targeted variant analysis
IS-PCR
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Clinical validity: Help
In Hemophilia A, aside from the inversions which make up approximately 50% of cases, the majority of cases are cause by single nucleotide variations, short insertions, or short deletions in the F8 gene. Approximately 6% of severe Hemophilia A cases are caused by non-inversion structural variants in F8 such as … View more
View citations (1)
  • Johnsen JM, Fletcher SN, Huston H, Roberge S, Martin BK, Kircher M, Josephson NC, Shendure J, Ruuska S, Koerper MA, Morales J, Pierce GF, Aschman DJ, Konkle BA. Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative. Blood Adv. 2017;1(13):824-834. doi:10.1182/bloodadvances.2016002923. Epub 2017 May 18. PMID: 29296726.
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)

Recommended fields not provided:
Target population, 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
During validation, no false negatives or false positive results were observed. Analytical sensitivity and specificity are >99%.
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
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.