Clinical Genetic Test
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GTR Test Accession:
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GTR000515524.11
Last updated in GTR: 2023-07-31
View version history
GTR000515524.11, last updated: 2023-07-31
GTR000515524.10, last updated: 2023-07-17
GTR000515524.9, last updated: 2022-08-26
GTR000515524.8, last updated: 2022-08-01
GTR000515524.7, last updated: 2020-08-10
GTR000515524.6, last updated: 2018-09-28
GTR000515524.5, last updated: 2018-08-08
GTR000515524.4, last updated: 2017-01-26
GTR000515524.3, last updated: 2016-09-20
GTR000515524.2, last updated: 2014-08-22
GTR000515524.1, last updated: 2014-08-20
Last annual review date for the lab: 2024-07-12
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At a Glance
Test purpose:
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Diagnosis;
Screening
Conditions (8):
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Hypogonadotropic hypogonadism 2 with or without anosmia;
Holoprosencephaly 11;
Holoprosencephaly 2
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Genes (8):
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Methods (2):
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Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Individuals with a form of holoprosencephaly or carrier testing for …
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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HPE PAN
Specimen Source:
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- Amniocytes
- Cord blood
- Peripheral (whole) blood
Who can order: Help
- Health Care Provider
Test Order Code:
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2008848
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.
Test additional service:
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Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Custom mutation-specific/Carrier testing
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:
How to Order,
Lab contact for this test,
Test strategy,
Test development
Conditions
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Total conditions: 8
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 8
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 2
Method Category
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Test method
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Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
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;
Screening
Target population:
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Individuals with a form of holoprosencephaly or carrier testing for those who have relatives with holoprosencephaly
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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Not provided.
Not provided.
Recommended fields not provided:
Clinical validity,
Clinical utility,
What is the protocol for interpreting a variation as a VUS?,
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
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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The analytical sensitivity is approximately 99 percent for single nucleotide variants (SNVs) and greater than 93 percent for insertions/duplications/deletions (indels) from 1-10 base pairs in size. Indels greater than 10 base pairs may be detected, but the analytical sensitivity may be reduced. Deletions of 2 exons or larger are detected …
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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
Recommended fields not provided:
Test Confirmation,
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
Clinical resources:
Molecular 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.