GTR Test Accession:
Help
GTR000584402.1
Last updated in GTR: 2020-05-19
View version history
GTR000584402.1, last updated: 2020-05-19
Last annual review date for the lab: 2022-05-14
Past due
LinkOut
At a Glance
Test purpose:
Help
Diagnosis
Conditions (1):
Help
Encephalopathy due to GLUT1 deficiency
Genes (1):
Help
SLC2A1 (1p34.2)
Methods (1):
Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA)
Target population: Help
GLUT1 deficiency syndrome 1, infantile onset, severe, 606777, Autosomal recessive, …
Clinical validity:
Help
Not provided
Clinical utility:
Help
Not provided
Ordering Information
Offered by:
Help
Test Order Code:
Help
6496
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:
How to Order,
Specimen source,
Lab contact for this test,
Contact policy,
Test strategy,
Test development
Conditions
Help
Total conditions: 1
Condition/Phenotype | Identifier |
---|
Test Targets
Genes
Help
Total genes: 1
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
---|
Methodology
Total methods: 1
Method Category
Help
Test method
Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
* Instrument: Not provided
Clinical Information
Test purpose:
Help
Diagnosis
Target population:
Help
GLUT1 deficiency syndrome 1, infantile onset, severe, 606777, Autosomal recessive, Autosomal dominant; GLUT1DS1 (diagnosis/ clinical suspition/ etiology investigation/ classification)
Recommended fields not provided:
Clinical validity,
Clinical utility,
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
MLPA has greater than 99% sensitive for detecting deletion and duplication variants in case of more than one prob is in the affected area. Sensitivity reduces to 95% for the CNV's detected just one prob. Copy number changes detected by only a single probe always require validation by another method.
Proficiency testing (PT):
Is proficiency testing performed for this test?
Help
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:
Help
Not provided
Additional Information
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.