Epilepsy, juvenile myoclonic 1
Clinical Genetic Test
offered by
GTR Test Accession: Help GTR000504497.1
Last updated in GTR: 2013-07-03
Last annual review date for the lab: 2022-11-24 Past due LinkOut
At a Glance
Juvenile myoclonic epilepsy
Genes (1): Help
EFHC1 (6p12.2)
Molecular Genetics - Sequence analysis of the entire coding region: Uni-directional Sanger sequencing
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Praxis fuer Humangenetik Wien
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Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
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Post-test genetic counseling required: Help
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Recommended fields not provided:
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
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Uni-directional Sanger sequencing
* Instrument: Not provided
Clinical Information
Test purpose: Help
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Sanger sequencing with >98,5% accuracy
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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