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GOSR2
Clinical Genetic Test
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offered by
Amplexa Genetics
View lab's test page
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GTR Test Accession: Help GTR000530089.2
INHERITED DISEASENERVOUS SYSTEM
Last updated in GTR: 2023-01-16
View version history
Last annual review date for the lab: 2023-01-17 Past due LinkOut
At a Glance
Test purpose: Help
Prognostic; Risk Assessment
Conditions (1): Help
Progressive myoclonic epilepsy type 6
Genes (1): Help
GOSR2 (17q21.32)
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Any
Clinical validity: Help
Rivière et al 2012
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Amplexa Genetics
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
GOSR2
Contact Policy: Help
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: Help
Together with the filled-in requeistion form forward 2ml of EDTA stabilized peripheral blood or 2 ug of standard purified DNA.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Lab contact for this test, 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 *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Prognostic; Risk Assessment
Clinical validity: Help
Rivière et al 2012
Target population: Help
Any
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Use gene specific databases, HGMD, PubMed

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Research:
Is research allowed on the sample after clinical testing is complete? Help
None
Recommended fields not provided:
Clinical utility, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
99%, 100, 99%, 99%, 0%
Assay limitations: Help
Contaminated DNA, impure DNA, limited sample amount
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
European Molecular Genetics Quality Network, EMQN

Description of PT method: Help
Proficiency is validated as part of the general lab validation of the protocols for NGS and Sanger sequencing

Description of internal test validation method: Help
Coverage of entire target region, reading depth of at least x30, Phred score at a minimum of Q 20-30
VUS:
Software used to interpret novel variations Help
PolyPhen, SIFT, AGVGD, Mutationtaster, Mutationaccessor, SpliceSiteFinder, GeneSplicer,

Laboratory's policy on reporting novel variations Help
The noval variant will be reported to the requesting professional. Reporting to any other facility depends on the requesting professional.
Recommended fields not provided:
Test Confirmation, Citations to support assay limitations, Citations to support internal test validation method, Citations for Analytical validity, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

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.