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Myoclonic Epilepsy (NGS Panel and Copy Number Analysis)
Clinical Genetic Test
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offered by
MNG Laboratories (Medical Neurogenetics, LLC.)
View lab's test page
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GTR Test Accession: Help GTR000591279.1
INHERITED DISEASENERVOUS SYSTEMINHERITED DISEASE SUSCEPTIBILITY ... View more
Registered in GTR: 2020-08-06
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Last annual review date for the lab: 2024-08-09 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (14): Help
Juvenile myoclonic epilepsy; Action myoclonus-renal failure syndrome; Epilepsy, familial adult myoclonic, 5 more...
Genes (125): Help
AARS1 (16q22.1); ADGRV1 (5q14.3); ADRA2B (2q11.2); ADSL (22q13.1); AFG3L2 (18p11.21) more...
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
MNG Laboratories (Medical Neurogenetics, LLC.)
View lab's website
View lab's test page
Specimen Source: Help
  • Amniocytes
  • Buccal swab
  • Fibroblasts
  • Frozen tissue
  • Isolated DNA
  • Peripheral (whole) blood
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
NGS412
How to Order: Help
Identify the test you need with our test name or test code search, and print the test requisition form.

Request the appropriate sample collection kit from MNG, or use your own for sample collection.

Ship us the sample(s) overnight—free inbound and return FedEx Priority Overnight® shipping …
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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:
Lab contact for this test, Contact policy, Test strategy, Test development
Conditions Help
Total conditions: 14
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 125
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, 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
Analytical Validity: Help
Greater than 99% sensitivity and specificity based on CAP proficiency testing
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
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

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