GTR Test Accession:
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GTR000521351.2
Last updated in GTR:
2015-09-29
View version history
GTR000521351.2,
last updated:
2015-09-29
GTR000521351.1,
registered in GTR:
2015-02-27
Last annual review date for the lab: 2023-01-27
Past due
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At a Glance
Test purpose:
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Diagnosis;
Drug Response;
Mutation Confirmation; ...
Conditions (2):
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Leprechaunism syndrome;
Hyperinsulinism due to INSR deficiency
Genes (1):
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INSR (19p13.2)
Methods (3):
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Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Any
Clinical validity:
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Not provided
Clinical utility:
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Establish or confirm diagnosis;
Guidance for management;
Guidance for selecting a drug therapy and/or dose; ...
Ordering Information
Offered by:
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Specimen Source:
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- Amniotic fluid
- Buccal swab
- Chorionic villi
- Isolated DNA
- Peripheral (whole) blood
- Saliva
- White blood cell prep
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
Test Order Code:
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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
Confirmation of research findings
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Confirmation of research findings
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Test additional service:
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Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Custom mutation-specific/Carrier testing
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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No
Pre-test genetic counseling required:
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Yes
Post-test genetic counseling required:
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Yes
Recommended fields not provided:
Test strategy
Conditions
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Total conditions: 2
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 1
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 3
Method Category
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Test method
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Instrument
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina HiSeq™2000 system
Sequence analysis of select exons
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3730 capillary sequencing instrument
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina HiSeq™2000 system
Clinical Information
Test purpose:
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Diagnosis;
Drug Response;
Mutation Confirmation;
Pre-symptomatic;
Predictive;
Risk Assessment
Clinical utility:
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Establish or confirm diagnosis
Guidance for management
Guidance for selecting a drug therapy and/or dose
Predictive risk information for patient and/or family members
Guidance for management
Guidance for selecting a drug therapy and/or dose
Predictive risk information for patient and/or family members
Target population:
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Any
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Yes.
Yes.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes.
Yes.
Recommended fields not provided:
Clinical validity,
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
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Specificity 99,99, sensisivity 99,99.
Assay limitations:
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Only exons and the exon - intron boundaries are covered. We do not perform analysis of deep intron variants.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
European Molecular Genetics Quality Network, EMQN
Description of PT method: Help
The lab is accredited according to ISO 15189 in accordance with the Danish Quality Model under DANAK (The Danish Accreditation body) in accordance with the European co-operation for Accreditation (EA), the International Accreditation Forum (IAF) and The International Laboratory Accreditation Cooperation (ILAC) The lab is participating in quality accesment scheems … View more
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
European Molecular Genetics Quality Network, EMQN
Description of PT method: Help
The lab is accredited according to ISO 15189 in accordance with the Danish Quality Model under DANAK (The Danish Accreditation body) in accordance with the European co-operation for Accreditation (EA), the International Accreditation Forum (IAF) and The International Laboratory Accreditation Cooperation (ILAC) The lab is participating in quality accesment scheems … View more
VUS:
Software used to interpret novel variations
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PolyPhen, SIFT, AGVGD, Mutationtaster, Mutationaccessor, SpliceSiteFinder, GeneSplicer,
PolyPhen, SIFT, AGVGD, Mutationtaster, Mutationaccessor, SpliceSiteFinder, GeneSplicer,
Recommended fields not provided:
Test Confirmation,
Citations to support assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
Not Applicable
Additional Information
Clinical resources:
Molecular 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.