GTR Test Accession:
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GTR000521823.5
Last updated in GTR: 2022-10-25
View version history
GTR000521823.5, last updated: 2022-10-25
GTR000521823.4, last updated: 2022-06-09
GTR000521823.3, last updated: 2016-03-03
GTR000521823.2, last updated: 2015-07-22
GTR000521823.1, last updated: 2015-03-18
Last annual review date for the lab: 2023-06-08
Past due
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At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation
Conditions (1):
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X-linked severe congenital neutropenia
Genes (5):
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CD177 (19q13.31);
FCGR3B (1q23.3);
ITGAL (16p11.2);
ITGAM (16p11.2);
SLC44A2 (19p13.2)
Methods (1):
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Molecular Genetics - Targeted variant analysis: PCR with allele specific hybridization
Target population: Help
Not provided
Clinical validity:
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Not provided
Clinical utility:
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Establish or confirm diagnosis;
Predictive risk information for patient and/or family members
Ordering Information
Offered by:
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Specimen Source:
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- Amniocytes
- Amniotic fluid
- Chorionic villi
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
Test Order Code:
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CPT codes:
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Lab contact:
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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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Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
OrderCode: 5201
Genetic counseling
Result interpretation
OrderCode: 5201
Genetic counseling
Result interpretation
Test development:
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Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required:
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Based on applicable state law
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:
Test strategy
Conditions
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Total conditions: 1
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 5
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Targeted variant analysis
PCR with allele specific hybridization
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation
Clinical utility:
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Establish or confirm diagnosis
Predictive risk information for patient and/or family members
Predictive risk information for patient and/or family members
Recommended fields not provided:
Clinical validity,
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
Test Comments:
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The neutrophil alloantigens HNA-1a, HNA-1b, HNA-1c, HNA-3a, and HNA-4a have all been reported to cause neonatal alloimmune neutropenia (NAN). Antibodies against HNA-1a, -1b, and HNA-3a have all been implicated in cases of TRALI, with HNA-3a antibodies being the most frequent cause of fatal TRALI reactions. Population studies suggest the HNA-1c …
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Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Analytical sensitivity is >99% for mutations within the coding sequence and intron/exon borders.
Assay limitations:
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Mutations that are outside the regions sequenced will not be detected. Rare variant alleles may not be identified by these assays.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
No
Recommended fields not provided:
Test Confirmation,
Citations to support assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
PT Provider,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
FDA exercises enforcement discretion
NYS CLEP Approval:
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Number:
Status: Pending
Status: Pending
Additional Information
Clinical resources:
Molecular resources:
Consumer resources:
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Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.