Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000570657.5
CAP
Last updated in GTR:
2024-08-30
View version history
GTR000570657.5,
last updated:
2024-08-30
GTR000570657.4,
last updated:
2023-08-28
GTR000570657.3,
last updated:
2023-08-23
GTR000570657.2,
last updated:
2022-08-30
GTR000570657.1,
registered in GTR:
2020-09-22
Last annual review date for the lab: 2024-08-30
LinkOut
At a Glance
Test purpose:
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Diagnosis
Conditions (63):
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Genes (23):
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CEP120 (5q23.2);
CSPP1 (8q13.1-13.2);
DYNC2H1 (11q22.3);
DYNC2I1 (7q36.3);
DYNC2I2 (9q34.11)
more...
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
Individuals with a phenotype consistent with heritable short-rib polydactly and/or …
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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SZM
Specimen Source:
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- Cell culture
- Cord blood
- Fibroblasts
- Isolated DNA
- Peripheral (whole) blood
- Saliva
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
Test Order Code:
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SkeletalZoom
View other test codes
View other test codes
CPT codes:
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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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Submit sample with completed requisition form.
Order URL
Order URL
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: 63
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 23
| 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)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis
Target population:
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Individuals with a phenotype consistent with heritable short-rib polydactly and/or skeletal ciliopathies.
View citations (1)
- none
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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Variants are classified using the Standards and guidelines for the interpretation of sequence variants published by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (Richards et al, 2015, PMID 25741868).
Variants are classified using the Standards and guidelines for the interpretation of sequence variants published by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (Richards et al, 2015, PMID 25741868).
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Yes. Our VUS resolution program involves targeting additional family members for a VUS, with the intention of this additional information aiding in reclassification of the variant. In order to qualify for our VUS resolution program, your patient must have at least one VUS listed on a test report that was issued … View more
Yes. Our VUS resolution program involves targeting additional family members for a VUS, with the intention of this additional information aiding in reclassification of the variant. In order to qualify for our VUS resolution program, your patient must have at least one VUS listed on a test report that was issued … View more
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
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Sequencing: >94% for single nucleotide and >76% for small insertion/deletion variants for the nucleotides evaluated. Exonic deletions/duplications: >97% for unique regions of the genome. This test is not validated to identify small deletions/insertions of greater than 20bp, exonic deletions and duplications in pseudogenes or other repetitive regions of the genome …
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View citations (1)
- none
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
FDA exercises enforcement discretion
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.