GTR Test Accession:
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GTR000323018.1
Last updated in GTR: 2013-12-02
View version history
GTR000323018.1, last updated: 2013-12-02
Last annual review date for the lab: 2020-12-10
Past due
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At a Glance
Test purpose:
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Diagnosis;
Pre-symptomatic;
Risk Assessment
Conditions (1):
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Nonpersistence of intestinal lactase
Genes (2):
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LCT (2q21.3), MCM6 (2q21.3)
Methods (1):
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Molecular Genetics - Sequence analysis of select exons: Bi-directional Sanger Sequence Analysis
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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- Dried blood spot (DBS) card
- Isolated DNA
- Peripheral (whole) blood
- Saliva
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- In-State Patients
- Licensed Physician
- Out-of-State Patients
Test Order Code:
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LCT-1
Contact Policy:
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Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Genetic counseling
Result interpretation
Genetic counseling
Result interpretation
Informed consent required:
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Yes
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
How to Order,
Lab contact for this test,
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: 2
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 select exons
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3730 capillary sequencing instrument
Clinical Information
Test purpose:
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Diagnosis;
Pre-symptomatic;
Risk Assessment
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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No.
No.
Will the lab re-contact the ordering physician if variant interpretation changes?
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No.
No.
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:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Analytical sensitivity >99%
Analytical specificity >99%
Precision >99%
Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
No
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:
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.