GTR Test Accession:
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GTR000241587.5
Last updated in GTR:
2022-03-17
View version history
GTR000241587.5,
last updated:
2022-03-17
GTR000241587.4,
last updated:
2022-01-25
GTR000241587.3,
last updated:
2021-02-25
GTR000241587.2,
last updated:
2015-02-27
GTR000241587.1,
registered in GTR:
2013-10-30
Last annual review date for the lab: 2023-01-27
Past due
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Drug Response;
Mutation Confirmation; ...
Conditions (1):
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Hyperinsulinemic hypoglycemia, familial, 1
Genes (1):
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ABCC8 (11p15.1)
Methods (4):
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Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Target population: Help
Any
Clinical validity:
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Specificity 99,99, sensisivity 99,99.
Clinical utility:
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Avoidance of invasive testing;
Establish or confirm diagnosis;
Guidance for management; ...
Ordering Information
Offered by:
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Test short name:
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ABCC8
Specimen Source:
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- Buccal swab
- Cell culture
- 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
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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Contact Klaus Brusgaard at klaus.brusgaard@rsyd.dk or fill in requisition
Order URL
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Deletion/Duplication Testing
Confirmation of research findings
Custom Deletion/Duplication Testing
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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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 Order Code,
Test strategy
Conditions
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Total conditions: 1
| 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: 4
Method Category
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Test method
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Instrument
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Applied Biosystems 3730 capillary sequencing instrument
Agilent 2100 Bioanalyzer
Agilent 2100 Bioanalyzer
Methylation analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Applied Biosystems 3730 capillary sequencing instrument
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina HiSeq™2000 system
Targeted variant analysis
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3730 capillary sequencing instrument
Clinical Information
Test purpose:
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Diagnosis;
Drug Response;
Mutation Confirmation;
Pre-symptomatic;
Risk Assessment;
Screening
Clinical validity:
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Specificity 99,99, sensisivity 99,99.
Clinical utility:
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Avoidance of invasive testing
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
Reproductive decision-making
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
Reproductive decision-making
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:
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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Scanning of select exons available upon request
Mutation panel for Ashkenazi Jewish population; delF1388 and 3992-9G>A
Deletion/duplication analysis by MLPA
Mutation panel for Ashkenazi Jewish population; delF1388 and 3992-9G>A
Deletion/duplication analysis by MLPA
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Sequence method detects 99% of sequence variants
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
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
European Molecular Genetics Quality Network, EMQN
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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Category:
Not Applicable
Additional Information
Clinical resources:
Molecular resources:
Consumer resources:
IMPORTANT NOTE:
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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.