GTR Test Accession:
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GTR000597311.1
Registered in GTR:
2022-01-27
View version history
GTR000597311.1,
registered in GTR:
2022-01-27
Last annual review date for the lab: 2021-11-17
Past due
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation
Conditions (194):
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Dyskeratosis congenita, autosomal dominant 6;
Acute lymphoid leukemia;
Acute myeloid leukemia
more...
Genes (122):
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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
Not provided
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Test short name:
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Bone marrow failure syndrome panel. NGS panel of 122 genes.
Specimen Source:
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- Amniotic fluid
- Bone marrow
- Buccal swab
- Cell culture
- Chorionic villi
- Cord blood
- Dried blood spot (DBS) card
- Fetal blood
- Fibroblasts
- Fresh tissue
- Frozen tissue
- Isolated DNA
- Peripheral (whole) blood
- Saliva
- Skin
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- In-State Patients
- Nurse Practitioner
- Physician Assistant
- Public Health Mandate
- Registered Nurse
Test Order Code:
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PU000765
View other test codes
View other test codes
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.
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order:
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In the case of prenatal samples or samples that require special urgency, it must be indicated as such so that the procedure and response times are modified, incorporating an emergency protocol. Types of samples: - Peripheral blood> 5 ml> A 5 ‚Äã‚Äãml tube with EDTA. - Chorionic villi> 5-6 mg …
Order URL
Test service:
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Custom Sequence Analysis
Genetic counseling
Genetic counseling
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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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 194
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 122
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)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Not provided
Not provided
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes.
Yes.
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
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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The test is 99% sensitive for detecting SNVs and small indels (<20bp).
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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SIFT, PoliPhen, Mutation Taster, PROVEAN
SIFT, PoliPhen, Mutation Taster, PROVEAN
Recommended fields not provided:
Test Confirmation,
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
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.