GTR Test Accession:
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GTR000530631.4
Last updated in GTR: 2021-02-02
View version history
GTR000530631.4, last updated: 2021-02-02
GTR000530631.3, last updated: 2019-10-14
GTR000530631.2, last updated: 2018-10-08
GTR000530631.1, last updated: 2017-08-10
Last annual review date for the lab: 2022-04-08
Past due
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Monitoring;
Mutation Confirmation; ...
Conditions (28):
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Severe congenital neutropenia; 3-Methylglutaconic aciduria type 2; 3-methylglutaconic aciduria, type VIIB; ...
Genes (48):
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AK2 (1p35.1), AP3B1 (5q14.1), ASXL1 (20q11.21), CD40LG (Xq26.3), CLPB (11q13.4), ...
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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SCN Gene Set
Specimen Source:
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- Buccal swab
- Isolated DNA
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Licensed Physician
- Nurse Practitioner
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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To order a test, complete and submit a requisition form that can be found on our website (gps.wustl.edu)
Order URL
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Informed consent required:
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Decline to answer
Test strategy:
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NGS is performed first, if testing is negative (no pathogenic or likely pathogenic variants are identified), deletion/duplication analysis is done (as a send out) for AP3B1, GATA2, HAX1, RAB27A, SLC37A4, TAZ, VPS13B, WAS.
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 Order Code,
Test development
Conditions
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Total conditions: 28
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 48
| 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;
Monitoring;
Mutation Confirmation;
Prognostic
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
Availability:
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Tests performed
Interpretation performed both in-house and at an outside lab
Report generated both in-house and at an outside lab
Specimen preparation performed both in-house and at an outside lab
Wet lab work performed both in-house and at an outside lab
Test performance comments
If del/dup analysis is warranted- this is performed at an outside CAP/CLIA lab. All components of NGS are performed in house.
Interpretation performed both in-house and at an outside lab
Report generated both in-house and at an outside lab
Specimen preparation performed both in-house and at an outside lab
Wet lab work performed both in-house and at an outside lab
Test performance comments
If del/dup analysis is warranted- this is performed at an outside CAP/CLIA lab. All components of NGS are performed in house.
Analytical Validity:
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sensitivity of 100% and a specificity of 99.998-100%
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Inter-Laboratory
Yes
Method used for proficiency testing: Help
Inter-Laboratory
Recommended fields not provided:
Test Confirmation,
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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Not provided
Additional Information
Reviews:
Clinical resources:
Consumer resources:
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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.