GTR Test Accession:
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GTR000552582.8
Last updated in GTR: 2024-08-15
View version history
GTR000552582.8, last updated: 2024-08-15
GTR000552582.7, last updated: 2024-04-23
GTR000552582.6, last updated: 2019-12-05
GTR000552582.5, last updated: 2019-02-25
GTR000552582.4, last updated: 2018-06-25
GTR000552582.3, last updated: 2018-03-13
GTR000552582.2, last updated: 2018-02-05
GTR000552582.1, last updated: 2017-01-23
Last annual review date for the lab: 2024-02-05
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Recurrence
Conditions (1):
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Congenital glucose-galactose malabsorption
Genes (1):
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SLC5A1 (22q12.3)
Methods (1):
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Molecular Genetics - Targeted variant analysis: Uni-directional Sanger sequencing
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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Test short name:
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SLC5A1 Targeted
Specimen Source:
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- 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:
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SLC5A1 Targeted
View other test codes
View other test codes
CPT codes:
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Lab contact:
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Heng Wang, MD, PhD, ABP, Lab Director
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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To order, please complete the requisition that is on our website www.DDCclinic.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:
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Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service:
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Custom mutation-specific/Carrier testing
Informed consent required:
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Based on applicable state law
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 strategy,
Test development
Conditions
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Total conditions: 1
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 1
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 *
Targeted variant analysis
Uni-directional Sanger sequencing
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Recurrence
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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Targeted testing is performed for the Old Order Amish common pathogenic variant, SLC5A1 c.1673G>A
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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99-100% Detection Rate
Proficiency testing (PT):
Is proficiency testing performed for this test?
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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:
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Not provided
Additional Information
Reviews:
Clinical resources:
Molecular resources:
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Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.