GTR Test Accession:
Help
GTR000509066.3
Last updated in GTR:
2016-12-28
View version history
GTR000509066.3,
last updated:
2016-12-28
GTR000509066.2,
last updated:
2016-12-27
GTR000509066.1,
registered in GTR:
2016-01-26
Last annual review date for the lab: 2023-01-23
Past due
LinkOut
At a Glance
Test purpose:
Help
Diagnosis;
Mutation Confirmation;
Risk Assessment; ...
Conditions (1):
Help
Noonan syndrome
Genes (4):
Help
KRAS (12p12.1);
PTPN11 (12q24.13);
RAF1 (3p25.2);
SOS1 (2p22.1)
Methods (1):
Help
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Target population: Help
Not provided
Clinical validity:
Help
Not provided
Clinical utility:
Help
Not provided
Ordering Information
Offered by:
Help
Specimen Source:
Help
- Amniocytes
- Amniotic fluid
- Bone marrow
- Buccal swab
- Cell-free DNA
- Cerebrospinal fluid
- Chorionic villi
- Cord blood
- Cystic hygroma fluid
- Dried blood spot (DBS) card
- Fetal blood
- Fibroblasts
- Fresh tissue
- Frozen tissue
- Isolated DNA
- Paraffin block
- Peripheral (whole) blood
- Skin
- White blood cell prep
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- In-State Patients
- Licensed Dentist
- Licensed Physician
- Nurse Practitioner
- Out-of-State Patients
- Physician Assistant
- Public Health Mandate
- Registered Nurse
Test Order Code:
Help
250
Contact Policy:
Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Test service:
Help
Custom Sequence Analysis
Test additional service:
Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Custom mutation-specific/Carrier testing
Informed consent required:
Help
Yes
Pre-test genetic counseling required:
Help
No
Post-test genetic counseling required:
Help
Yes
Recommended fields not provided:
How to Order,
Lab contact for this test,
Test strategy,
Test development
Conditions
Help
Total conditions: 1
Condition/Phenotype | Identifier |
---|
Test Targets
Genes
Help
Total genes: 4
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
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose:
Help
Diagnosis;
Mutation Confirmation;
Risk Assessment;
Screening
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?,
Will the lab re-contact the ordering physician if variant interpretation changes?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Availability:
Help
Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
Help
>97% but expected 100%
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:
Test Confirmation,
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
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.