GTR Test Accession:
Help
GTR000561490.1
Registered in GTR:
2018-07-19
View version history
GTR000561490.1,
registered in GTR:
2018-07-19
Last annual review date for the lab: 2023-12-22
LinkOut
At a Glance
Test purpose:
Help
Diagnosis;
Mutation Confirmation
Conditions (1):
Help
Lethal Kniest-like syndrome
Genes (1):
Help
HSPG2 (1p36.12)
Methods (2):
Help
Molecular Genetics - Sequence analysis of the entire coding region: 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
Specimen Source:
Help
- Cell culture
- Cord blood
- Fibroblasts
- Isolated DNA
- Peripheral (whole) blood
- Saliva
- White blood cell prep
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
Test Order Code:
Help
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
Order URL
Test service:
Help
Clinical Testing/Confirmation of Mutations Identified Previously
OrderCode: 1121
Confirmation of research findings
OrderCode: 1121
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
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 (no manufacturer test name)
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: 1
Condition/Phenotype | Identifier |
---|
Test Targets
Genes
Help
Total genes: 1
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
---|
Methodology
Total methods: 2
Method Category
Help
Test method
Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Targeted variant analysis
Bi-directional Sanger Sequence Analysis
* 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.
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.
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.
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
Reviews:
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.