GTR Test Accession:
Help
GTR000568204.2
Last updated in GTR: 2019-12-20
View version history
GTR000568204.2, last updated: 2019-12-20
GTR000568204.1, last updated: 2019-06-25
Last annual review date for the lab: 2024-02-05
LinkOut
At a Glance
Test purpose:
Help
Diagnosis;
Mutation Confirmation;
Predictive; ...
Conditions (1):
Help
Radial aplasia-thrombocytopenia syndrome
Genes (1):
Help
RBM8A (1q21.1)
Methods (2):
Help
Molecular Genetics - Deletion/duplication analysis: Microarray; ...
Target population: Help
Not provided
Clinical validity:
Help
Not provided
Clinical utility:
Help
Not provided
Ordering Information
Offered by:
Help
Test short name:
Help
RBM8A
Specimen Source:
Help
- Cord blood
- Fetal blood
- Isolated DNA
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
Test Order Code:
Help
RBM8A Sequencing and/or Deletion and Duplication Analysis
View other test codes
View other test codes
CPT codes:
Help
Lab contact:
Help
Heng Wang, MD, PhD, ABP, Lab Director
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
To order, please complete the requisition that is on our website www.DDCcliniclab.org. Please make sure to complete the billing information and billing and contact name. If possible, please obtain prior authorization before sending the sample to our laboratory. Send EDTA purple top tube overnight delivery to arrive Monday through Friday …
Order URL
Test service:
Help
Clinical Testing/Confirmation of Mutations Identified Previously
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Result interpretation
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Result interpretation
Test additional service:
Help
Custom mutation-specific/Carrier testing
Test development:
Help
Test developed by laboratory (no manufacturer test name)
Informed consent required:
Help
Based on applicable state law
Pre-test genetic counseling required:
Help
Decline to answer
Post-test genetic counseling required:
Help
Decline to answer
Recommended fields not provided:
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
Deletion/duplication analysis
Microarray
CytoScan XON Assay
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Clinical Information
Test purpose:
Help
Diagnosis;
Mutation Confirmation;
Predictive;
Risk Assessment
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge?
Help
No.
No.
Will the lab re-contact the ordering physician if variant interpretation changes?
Help
Yes.
Yes.
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
What is the protocol for interpreting a variation as a VUS?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Procedure:
Help
All clinically significant and novel variants are confirmed by Sanger sequencing as needed.
Test Confirmation:
Help
All clinically significant and novel variants are confirmed by Sanger sequencing as needed.
Availability:
Help
Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
Help
99-100% Detection Rate
Proficiency testing (PT):
Is proficiency testing performed for this test?
Help
Yes
Method used for proficiency testing: Help
Intra-Laboratory
Yes
Method used for proficiency testing: Help
Intra-Laboratory
Recommended fields not provided:
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:
Help
Category:
Not Applicable
NYS CLEP Approval:
Help
Number:
Status: Pending
Status: Pending
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.