Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000591168.1
CAP
Registered in GTR:
2020-06-26
View version history
GTR000591168.1,
registered in GTR:
2020-06-26
Last annual review date for the lab: 2024-08-09
LinkOut
At a Glance
Test purpose:
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Diagnosis
Conditions (4):
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Familial hemophagocytic lymphohistiocytosis;
Hemophagocytic syndrome;
Macrophage activation syndrome
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Genes (36):
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Methods (1):
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Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Test short name:
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HLH Genetic Analysis
Specimen Source:
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- Buccal swab
- Isolated DNA
- Peripheral (whole) blood
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
Test Order Code:
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630477
Contact Policy:
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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:
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This test is orderable through LabCorp. Please contact your local representative for the appropriate test request forms, or any questions.
Samples may be collected at the clinical site or at a LabCorp patient service center.
This test is performed at MNG Laboratories, and may not be ordered directly from MNG.
Order URL
Samples may be collected at the clinical site or at a LabCorp patient service center.
This test is performed at MNG Laboratories, and may not be ordered directly from MNG.
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Result interpretation
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Result interpretation
Informed consent required:
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Decline to answer
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Lab contact for this test,
Test strategy,
Test development
Conditions
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Total conditions: 4
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 36
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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Variants are identified and evaluated using a proprietary collection of bioinformatic tools and comprehensively interpreted.
Variants are identified and evaluated using a proprietary collection of bioinformatic tools and comprehensively interpreted.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Not provided.
Not provided.
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
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:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Greater than 99% sensitivity and specificity based on CAP proficiency testing
Assay limitations:
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The assay will not consistently detect germline mosaicism below 50% or rule out the presence of large chromosomal aberrations, including rearrangements, inversions that do not change copy number of genomic regions. The assay does not detect repeat expansions. Possible intergenic variant interactions are not commented on. False positive or false …
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Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
No
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
VUS:
Software used to interpret novel variations
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A proprietary collection of bioinformatics tools.
Laboratory's policy on reporting novel variations Help
Following extensive investigation, variants that cannot be located in published literature or databases are reported as novel variations.
A proprietary collection of bioinformatics tools.
Laboratory's policy on reporting novel variations Help
Following extensive investigation, variants that cannot be located in published literature or databases are reported as novel variations.
Recommended fields not provided:
Test Confirmation,
Citations to support 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:
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Not provided
Additional Information
Clinical resources:
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.