GTR Test Accession:
Help
GTR000569092.1
Last updated in GTR: 2019-10-09
View version history
GTR000569092.1, last updated: 2019-10-09
Last annual review date for the lab: 2024-07-01
LinkOut
At a Glance
Test purpose:
Help
Diagnosis
Conditions (16):
Help
Surfactant metabolism dysfunction, pulmonary, 1;
Alagille syndrome due to a NOTCH2 point mutation;
Alveolar capillary dysplasia with pulmonary venous misalignment
more...
Genes (16):
Help
Methods (1):
Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
Clinical validity:
Help
Not provided
Clinical utility:
Help
Not provided
Ordering Information
Offered by:
Help
Al Jalila Children’s Genomics Center
View lab's test page
View lab's test page
Specimen Source:
Help
- Isolated DNA
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Dentist
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
- Registered Nurse
Test Order Code:
Help
PU003
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
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:
Lab contact for this test,
Test strategy,
Test development
Conditions
Help
Total conditions: 16
Condition/Phenotype | Identifier |
---|
Test Targets
Genes
Help
Total genes: 16
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
---|
Methodology
Total methods: 1
Method Category
Help
Test method
Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
Help
Diagnosis
Variant Interpretation:
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?,
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Confirmation:
Help
For variants classified as uncertain or higher, confirmation is performed by Sanger sequencing.
Availability:
Help
Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
Help
Sensitivity - 99.5%
Specificity - 99.99%
Proficiency testing (PT):
Is proficiency testing performed for this test?
Help
No
No
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
Not provided
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.