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Desbuquois dysplasia and related disorders Deletion / Duplication panel
Clinical Genetic Test
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offered by
HNL Genomics Connective Tissue Gene Tests
View lab's test page
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GTR Test Accession: Help GTR000559074.1
INHERITED DISEASEDYSMORPHOLOGYMUSCULOSKELETAL ... View more
Registered in GTR: 2018-01-25
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Last annual review date for the lab: 2023-12-22 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation
Conditions (3): Help
Desbuquois dysplasia 1; Desbuquois dysplasia 2; Larsen syndrome
Genes (11): Help
B3GALT6 (1p36.33); B3GAT3 (11q12.3); BPNT2 (8q12.1); CANT1 (17q25.3); CHST3 (10q22.1) more...
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Individuals whose clinical findings are consistent with the specific disorder.
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
HNL Genomics Connective Tissue Gene Tests
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
5125
View other test codes
Contact Policy: Help
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: Help
Please use the equisition form and easy-to-use submission instructions available on the CTGT web site
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    OrderCode: 5125
Confirmation of research findings
Test additional service: Help
Custom Prenatal Testing
    Comment: Optional Maternal Cell Contamination (MCC) testing is available for all prenatal tests
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Lab contact for this test, Test strategy
Conditions Help
Total conditions: 3
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 11
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
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: Help
Diagnosis; Mutation Confirmation
Target population: Help
Individuals whose clinical findings are consistent with the specific disorder.
Research:
Is research allowed on the sample after clinical testing is complete? Help
CTGT does not perform research on samples after testing is complete.
Recommended fields not provided:
Clinical validity, Clinical utility, What is the protocol for interpreting a variation as a VUS?, Sample negative report, Sample positive report
Technical Information
Test Confirmation: Help
Positive results are confirmed on a new DNA preparation using repeat sequence analysis.
Availability: Help
Tests performed
Entire test performed in-house

Test performance comments
If applicable, Maternal Cell Contamination testing is performed by an outside CLIA-approved university laboratory.
Analytical Validity: Help
Sensitivity and Specificity >99%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory

PT Provider: Help
Other

Description of PT method: Help
Internal proficiency testing is conducted biannually in compliance with all CAP regulations. Inter-laboratory proficiency testing is performed for some tests.
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: Help
Category: Not Applicable
Additional Information

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.