GTR Test Accession:
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GTR000553643.10
Last updated in GTR: 2023-09-28
View version history
GTR000553643.10, last updated: 2023-09-28
GTR000553643.9, last updated: 2023-09-26
GTR000553643.8, last updated: 2023-09-18
GTR000553643.7, last updated: 2023-08-10
GTR000553643.6, last updated: 2023-07-11
GTR000553643.5, last updated: 2022-06-29
GTR000553643.4, last updated: 2020-07-01
GTR000553643.3, last updated: 2019-07-03
GTR000553643.2, last updated: 2018-06-19
GTR000553643.1, last updated: 2017-05-16
Last annual review date for the lab: 2024-08-13
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At a Glance
Test purpose:
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Diagnosis
Conditions (9):
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Congenital dyserythropoietic anemia, type I;
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome;
Congenital dyserythropoietic anemia
more...
Genes (12):
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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 with suspected Congenital Dyserythropoietic Anemia
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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Test short name:
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10040-CDA
Specimen Source:
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- Buccal swab
- Fresh tissue
- Isolated DNA
- Peripheral (whole) blood
- Plasma
- Saliva
- Serum
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Public Health Mandate
Test Order Code:
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10040
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
Order URL
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Comment: 10040
OrderCode: 10040
Confirmation of research findings
Comment: 10040
OrderCode: 10040
Custom Sequence Analysis
Comment: 10040
OrderCode: 10040
Result interpretation
Comment: 10040
OrderCode: 10040
Comment: 10040
OrderCode: 10040
Confirmation of research findings
Comment: 10040
OrderCode: 10040
Custom Sequence Analysis
Comment: 10040
OrderCode: 10040
Result interpretation
Comment: 10040
OrderCode: 10040
Test additional service:
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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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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:
Test strategy
Conditions
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Total conditions: 9
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 12
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/MiniSeq
Clinical Information
Test purpose:
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Diagnosis
Clinical utility:
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Target population:
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Patients with suspected Congenital Dyserythropoietic Anemia
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 findings
Yes. We systematically (every 6-8 months) re-evaluated the data and re-contact the physician in case of new findings
Research:
Is research allowed on the sample after clinical testing is complete?
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Research is done after clinical test is complete for novel mutations. Informed consent for research is required.
Research is done after clinical test is complete for novel mutations. Informed consent for research is required.
Sample reports:
Recommended fields not provided:
Clinical validity,
Sample negative report
Technical Information
Test Procedure:
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All coding exons, 50 bp of flanking intronic sequence and at least 100bp of untranslated regions are enriched using Haloplex HS custom targeted protocol (Agilent), followed by high throughput sequencing (Illumina). Sequence variants changes are assessed and interpreted using commercial software combined with public and our own expert database. All …
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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
Description of PT method: Help
Sanger Full EQA test and NGS Germline EQA Test
Yes
Method used for proficiency testing: Help
Inter-Laboratory
PT Provider: Help
European Molecular Genetics Quality Network, EMQN
Description of PT method: Help
Sanger Full EQA test and NGS Germline EQA Test
VUS:
Software used to interpret novel variations
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Mutation surveyor or own pipeline for NGS
Laboratory's policy on reporting novel variations Help
Novel variations suspected to be patogenic are included in the routine reports. VUS are also reported. Non pathogenic variations are NOT reported as well as VUS with MAF>3%
Mutation surveyor or own pipeline for NGS
Laboratory's policy on reporting novel variations Help
Novel variations suspected to be patogenic 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,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Not provided
Additional Information
Clinical resources:
Molecular resources:
Consumer resources:
IMPORTANT NOTE:
NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading.
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.