Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000522580.13
CAP
Last updated in GTR:
2022-12-06
View version history
GTR000522580.13,
last updated:
2022-12-06
GTR000522580.12,
last updated:
2022-11-22
GTR000522580.11,
last updated:
2022-10-20
GTR000522580.10,
last updated:
2022-10-13
GTR000522580.9,
last updated:
2022-08-25
GTR000522580.8,
last updated:
2022-05-02
GTR000522580.7,
last updated:
2022-04-28
GTR000522580.6,
last updated:
2019-01-15
GTR000522580.5,
last updated:
2018-05-18
GTR000522580.4,
last updated:
2017-12-11
GTR000522580.3,
last updated:
2017-05-16
GTR000522580.2,
last updated:
2017-02-09
GTR000522580.1,
registered in GTR:
2016-06-16
Last annual review date for the lab: 2024-04-17
LinkOut
At a Glance
Test purpose:
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Diagnosis
Conditions (86):
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Noonan syndrome 5;
ALG1-congenital disorder of glycosylation;
ALG9 congenital disorder of glycosylation
more...
Genes (87):
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Methods (1):
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Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Specimen Source:
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- Amniocytes
- Amniotic fluid
- Chorionic villi
- Cord blood
- Fibroblasts
- Fresh tissue
- Isolated DNA
- Peripheral (whole) blood
- Saliva
- Skin
Who can order: Help
- Health Care Provider
- Licensed Physician
Lab contact:
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Kellie Walden, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
kwalden@ggc.org
334-246-3647
Robin Fletcher, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
rfletcher@ggc.org
864-388-1055
kwalden@ggc.org
334-246-3647
Robin Fletcher, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
rfletcher@ggc.org
864-388-1055
Contact Policy:
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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:
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Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Decline to answer
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Test Order Code,
Test strategy
Conditions
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Total conditions: 86
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 87
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
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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
Test Comments:
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This panel is available for prenatal diagnosis in cases with suggestive ultrasound findings. Please contact the lab to discuss the case prior to sending a sample for prenatal analysis.
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Sequence method detects 99% of sequence variants
Proficiency testing (PT):
Is proficiency testing performed for this test?
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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:
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Category:
FDA exercises enforcement discretion
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.