Clinical Genetic Test
offered by
GTR Test Accession:
Help
GTR000558810.10
CAP
Last updated in GTR:
2022-12-06
View version history
GTR000558810.10,
last updated:
2022-12-06
GTR000558810.9,
last updated:
2022-11-22
GTR000558810.8,
last updated:
2022-10-20
GTR000558810.7,
last updated:
2022-10-13
GTR000558810.6,
last updated:
2022-08-25
GTR000558810.5,
last updated:
2022-05-02
GTR000558810.4,
last updated:
2022-04-28
GTR000558810.3,
last updated:
2019-01-15
GTR000558810.2,
last updated:
2018-09-13
GTR000558810.1,
registered in GTR:
2018-05-18
Last annual review date for the lab: 2024-04-17
LinkOut
At a Glance
Test purpose:
Help
Diagnosis
Conditions (92):
Help
Hypertrophic cardiomyopathy 9;
3-Methylglutaconic aciduria type 2;
Amyloidosis, hereditary systemic 1
more...
Genes (51):
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
Specimen Source:
Help
- Cord blood
- Fibroblasts
- Fresh tissue
- Isolated DNA
- Peripheral (whole) blood
- Saliva
- Skin
Who can order: Help
- Health Care Provider
- Licensed Physician
Lab contact:
Help
Robin Fletcher, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
[email protected]
864-388-1055
Kellie Walden, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
[email protected]
334-246-3647
[email protected]
864-388-1055
Kellie Walden, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
[email protected]
334-246-3647
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
Test service:
Help
Clinical Testing/Confirmation of Mutations Identified Previously
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:
Test Order Code,
Test strategy
Conditions
Help
Total conditions: 92
Condition/Phenotype | Identifier |
---|
Test Targets
Genes
Help
Total genes: 51
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
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
Availability:
Help
Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
Help
Sequence method detects 98% of sequence variants
Proficiency testing (PT):
Is proficiency testing performed for this test?
Help
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
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:
Practice guidelines:
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.