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Hemophilia Complete Genetic Panel (F8, F9 and VWF gene sequencing … see more Hemophilia Complete Genetic Panel (F8, F9 and VWF gene sequencing F8 inversions assays) (2 Day STAT TAT)  see less
Clinical Genetic Test
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offered by
Machaon Diagnostics
View lab's test page
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GTR Test Accession: Help GTR000592958.3
CAP
INHERITED DISEASEHEMATOLOGY
Last updated in GTR: 2023-03-13
View version history
Last annual review date for the lab: 2024-04-04 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (6): Help
Hereditary factor VIII deficiency disease; Hereditary factor IX deficiency disease; Von Willebrand disease type 2A more...
Genes (3): Help
F8 (Xq28); F9 (Xq27.1); VWF (12p13.31)
Methods (2): Help
Molecular Genetics - Sequence analysis of select exons: PCR; ...
Target population: Help
Not provided
Clinical validity: Help
We sequenced nine positive control samples from donors. Six samples …
Clinical utility: Help
Not provided
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
Test Order Code: Help
P1226
View other test codes
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.
How to Order: Help
Please visit lab website for details. Inquire about functional confirmation testing.
Order URL
Test service: Help
Custom Sequence Analysis
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, Test strategy
Conditions Help
Total conditions: 6
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 3
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Sequence analysis of select exons
PCR
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Clinical validity: Help
We sequenced nine positive control samples from donors. Six samples were collected from obligate carriers, potential carriers, or patients diagnosed with HA. Three samples were from VWD patients. The HA patients and carriers were known to have the pathogenic inversion in the F8 gene, which cannot be detected by NGS; … View more
View citations (1)
  • Swystun LL, James PD. Genetic diagnosis in hemophilia and von Willebrand disease. Blood Rev. 2017;31(1):47-56. doi:10.1016/j.blre.2016.08.003. Epub 2016 Aug 17. PMID: 27596108.
Recommended fields not provided:
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 analytic specificity and sensitivity of the NGS panel and inversion PCR assay are greater than 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.