GTR Test Accession:
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GTR000611982.2
Last updated in GTR: 2023-09-28
View version history
GTR000611982.2, last updated: 2023-09-28
GTR000611982.1, last updated: 2023-09-26
Last annual review date for the lab: 2023-08-10
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At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation
Conditions (3):
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X-linked sideroblastic anemia 1; Cutaneous porphyria; Erythropoietic protoporphyria
Genes (4):
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ALAS2 (Xp11.21), CLPX (15q22.31), FECH (18q21.31), UROS (10q26.2)
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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Establish or confirm diagnosis
Ordering Information
Offered by:
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Who can order: Help
- Health Care Provider
Test Order Code:
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10080
View other test codes
View other test codes
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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Please write an email to info@bloodgenetics.com
http://bloodgenetics.com/study-request/?lang=en
Order URL
http://bloodgenetics.com/study-request/?lang=en
Order URL
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Decline to answer
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:
Specimen source,
Test strategy
Conditions
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Total conditions: 3
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 4
| 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)
Applied Biosystems 3730 capillary sequencing instrument
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation
Clinical utility:
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Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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Practice guidelines for the Interpretation and Reporting of Unclassified Variants (UVs) in Clinical Molecular Genetics. Prepared and edited by Jennie Bell, Danielle Bodmer, Erik Sistermans and Simon C Ramsden
Practice guidelines for the Interpretation and Reporting of Unclassified Variants (UVs) in Clinical Molecular Genetics. Prepared and edited by Jennie Bell, Danielle Bodmer, Erik Sistermans and Simon C Ramsden
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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No.
No.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes. We systematically (every 6-8 months) re-evaluated the data and re-contact the physician in case of new pathogenic findings
Yes. We systematically (every 6-8 months) re-evaluated the data and re-contact the physician in case of new pathogenic findings
Research:
Is research allowed on the sample after clinical testing is complete?
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In interesting cases, we perform research after clinical testing is complete and we require a research consent inform for that purpose
In interesting cases, we perform research after clinical testing is complete and we require a research consent inform for that purpose
Recommended fields not provided:
Clinical validity,
Target population,
Sample negative report,
Sample positive report
Technical Information
Test Procedure:
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If we found a pathogenic variation, we perform an independent analysis to confirm the finding
Test Confirmation:
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If we found a pathogenic variation, we perform an independent analysis to confirm the finding
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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99.9%. If we found a pathogenic variation, we perform an independent analysis to confirm the finding
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Inter-Laboratory
PT Provider: Help
European Molecular Genetics Quality Network, EMQN
Yes
Method used for proficiency testing: Help
Inter-Laboratory
PT Provider: Help
European Molecular Genetics Quality Network, EMQN
VUS:
Software used to interpret novel variations
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Varsome
Laboratory's policy on reporting novel variations Help
Novel variations suspected to be pathogenic are included in the routine reports. VUS are also reported. Non pathogenic variations are NOT reported as well as VUS with MAF>3%
Varsome
Laboratory's policy on reporting novel variations Help
Novel variations suspected to be pathogenic are included in the routine reports. VUS are also reported. Non pathogenic variations are NOT reported as well as VUS with MAF>3%
Recommended fields not provided:
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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Not provided
Additional Information
Reviews:
Clinical resources:
Molecular resources:
Consumer 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.