GTR Test Accession:
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GTR000557955.2
Last updated in GTR: 2021-07-28
View version history
GTR000557955.2, last updated: 2021-07-28
GTR000557955.1, last updated: 2020-08-04
Last annual review date for the lab: 2024-05-22
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation
Conditions (1):
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Multiple endocrine neoplasia, type 1
Genes (1):
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MEN1 (11q13.1)
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
Patients show clear symptoms of MEN1 or family member of …
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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National Taiwan University Hospital A1 Center
View lab's test page
View lab's test page
Specimen Source:
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- Buffy coat
- Peripheral (whole) blood
Who can order: Help
- Licensed Physician
Test Order Code:
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000X0245
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View other test codes
Lab contact:
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How to Order:
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Fill out Sample testing request and consent form
Leave contact information number and email address (required)
Sample with the forms send in refrigerating condition and send it to NTUH lab number 19010
Order URL
Leave contact information number and email address (required)
Sample with the forms send in refrigerating condition and send it to NTUH lab number 19010
Order URL
Test service:
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Custom Sequence Analysis
Test additional service:
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Custom mutation-specific/Carrier testing
Informed consent required:
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Yes
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:
Contact policy,
Test strategy,
Test development
Conditions
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Total conditions: 1
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 1
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
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina MiSeq
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation
Target population:
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Patients show clear symptoms of MEN1 or family member of a MEN1 patient
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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ACMG guideline
ACMG guideline
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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No. NT$1500/person
No. NT$1500/person
Will the lab re-contact the ordering physician if variant interpretation changes?
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Not provided.
Not provided.
Recommended fields not provided:
Clinical validity,
Clinical utility,
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 Procedure:
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Test sample with sample preparation and probe capture of MEN1 entire coding region, and then perform NGS on Illumina MiSeq
Test Confirmation:
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PCR of single variant with Sanger sequencing
Availability:
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Tests performed
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed in-house
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed in-house
Analytical Validity:
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Disease causing variant is identified around 45%-90% on clinical diagnosed MEN1 patients, with sanger confirmation of 100% consistency.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Intra-Laboratory
Yes
Method used for proficiency testing: Help
Intra-Laboratory
VUS:
Software used to interpret novel variations
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SIFT, PolyPhen-2
SIFT, PolyPhen-2
Recommended fields not provided:
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
Suggested reading:
Clinical resources:
Molecular resources:
Practice guidelines:
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Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.