3 mL whole blood in lavender top (EDTA) OR 6 cytobrushes
Collection personnel MUST initial specimen container to confirm sample identity.
For a free cytobrush collection kit, please call 513-636-4474.
Minimum Collection Volume
3 mL whole blood in lavender top (EDTA) OR 6 cytobrushes.
If a lesser volume of blood or a smaller number of cytobrushes is sent, the laboratory will attempt to perform the test requested. The laboratory cannot assure either a result and/or the ability to perform repeat testing and/or additional testing if the minimum volumes are not met.
Acceptable Specimen Collect Alternatives
The laboratory can obtain results for this test using different specimen types. For best results, send one of the specimen type(s) listed above. If only an alternate specimen typeis available, please call the laboratory at (513) 636-4474 for more information on how to obtain and/or handle any alternate specimen types.
If DNA is sent as a specimen for this assay, the DNA must have been extracted at a CLIA and/or CAP accredited laboratory.
Patient Preparation
Both FULL (complete gene analysis) and TARGETED or KNOWN (specific mutation) tests are available. A 57kb DELETION Study is also available for this gene (CTNS). Specify which type of testing you require on the requisition. A copy of the proband's test report or the proband's name and date of birth (DOB), if the test was performed at CCHMC, is required for TARGETED/KNOWN analysis.
Specimen Preparation
Do not centrifuge (spin) tube
Storage/Transport Temperature
Store at room temperature / Use overnight shipping (protect from temperature extremes, no ice)
HOURS of OPERATION: 6 AM - 12 AM (Monday through Friday, with more limited hours on the weekend)
Unacceptable Conditions
No name on specimen container
Ordering Recommendations
This panel consists of a 57 kb DELETION test and 2 gene SEQUENCING tests that can be ordered in any combination. Please specify on the requisition which tests on the panel are to be performed. CTNS 57 kb Deletion Analysis CTNS Full Gene Sequencing CTNS Targeted Analysis
Synonyms
1161 - CTNS Gene Mutation Analysis
CNTS 57 kb Deletion Analysis
CTNS Targeted Gene Sequencing
CTNS Full Gene Sequencing
Reflex Testing
Tests in this panel can be ordered as REFLEX. Just mark on the requisition which test is the reflex test. Then the reflex test will only be initiated if the first test is negative.
Methodology
Sanger Sequencing for Full and Targeted Analysis
PCR for the 57 kb Deletion Analysis
for FULL Analysis: 81479
for Targeted/Known Analysis: 81479
for 57 kb Deletion Analysis: 81479
Please call 1-866-450-4198 for pricing or with any billing questions.
Collection
Collect
3 mL whole blood in lavender top (EDTA) OR 6 cytobrushes
Collection personnel MUST initial specimen container to confirm sample identity.
For a free cytobrush collection kit, please call 513-636-4474.
Minimum Collection Volume
3 mL whole blood in lavender top (EDTA) OR 6 cytobrushes.
If a lesser volume of blood or a smaller number of cytobrushes is sent, the laboratory will attempt to perform the test requested. The laboratory cannot assure either a result and/or the ability to perform repeat testing and/or additional testing if the minimum volumes are not met.
Acceptable Specimen Collect Alternatives
The laboratory can obtain results for this test using different specimen types. For best results, send one of the specimen type(s) listed above. If only an alternate specimen typeis available, please call the laboratory at (513) 636-4474 for more information on how to obtain and/or handle any alternate specimen types.
If DNA is sent as a specimen for this assay, the DNA must have been extracted at a CLIA and/or CAP accredited laboratory.
Patient Preparation
Both FULL (complete gene analysis) and TARGETED or KNOWN (specific mutation) tests are available. A 57kb DELETION Study is also available for this gene (CTNS). Specify which type of testing you require on the requisition. A copy of the proband's test report or the proband's name and date of birth (DOB), if the test was performed at CCHMC, is required for TARGETED/KNOWN analysis.
Specimen Preparation
Do not centrifuge (spin) tube
Storage/Transport Temperature
Store at room temperature / Use overnight shipping (protect from temperature extremes, no ice)
HOURS of OPERATION: 6 AM - 12 AM (Monday through Friday, with more limited hours on the weekend)
Unacceptable Conditions
No name on specimen container
Ordering
Ordering Recommendations
This panel consists of a 57 kb DELETION test and 2 gene SEQUENCING tests that can be ordered in any combination. Please specify on the requisition which tests on the panel are to be performed. CTNS 57 kb Deletion Analysis CTNS Full Gene Sequencing CTNS Targeted Analysis
Synonyms
1161 - CTNS Gene Mutation Analysis
CNTS 57 kb Deletion Analysis
CTNS Targeted Gene Sequencing
CTNS Full Gene Sequencing
Reflex Testing
Tests in this panel can be ordered as REFLEX. Just mark on the requisition which test is the reflex test. Then the reflex test will only be initiated if the first test is negative.
Methodology
Sanger Sequencing for Full and Targeted Analysis
PCR for the 57 kb Deletion Analysis
