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Inherited Neutropenia panel by next-generation sequencing (NGS)
Clinical Genetic Test
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offered by
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory
View lab's test page
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GTR Test Accession: Help GTR000512562.9
INHERITED DISEASEIMMUNOLOGYHEMATOLOGY ... View more
Last updated in GTR: 2021-08-16
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Last annual review date for the lab: 2024-07-01 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Risk Assessment
Conditions (39): Help
Hermansky-Pudlak syndrome 2; 3-Methylglutaconic aciduria type 2; 3-methylglutaconic aciduria, type VIIB more...
Genes (40): Help
AK2 (1p35.1); AP3B1 (5q14.1); CD40LG (Xq26.3); CLPB (11q13.4); CSF3R (1p34.3) more...
Methods (2): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory
View lab's website
View lab's test page
Test short name: Help
Inherited Neutropenia
Lab contact: Help
Lab Administration, Administrator
LabGeneticCounselors@cchmc.org
513-636-4474
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
Complete the appropriate test requisition and have it signed by the referring physician.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Informed consent required: Help
Decline to answer
Test strategy: Help
Single gene sequencing is available for any gene on the panel. Sequencing for these genes is also available through the Bone Marrow Failure syndromes next-generation sequencing panel.
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, Specimen source, Test development
Conditions Help
Total conditions: 39
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 40
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 the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Targeted variant analysis
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Risk Assessment
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
Test Comments: Help
Please see test requisition for information about reflex deletion/duplication analysis by array comparative genomic hybridization (aCGH).
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
At least 70-80% of the genetic causes of congenital or inherited neutropenia are identified by this panel. The sensitivity of DNA sequencing is over 99% for the detection of nucleotide base changes, small deletions and insertions in the regions analyzed. Somatic mutations in CSF3R are likely to be detected when … View more
Assay limitations: Help
Mutations in regulatory regions or other untranslated regions are not detected by this test. Large deletions involving entire single exons or multiple exons, large insertions and other complex genetic events have been reported in many of these genes and will not be identified using this test methodology. Rare primer site … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Inter-Laboratory
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: Help
Category: FDA exercises enforcement discretion
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.