Clinical Genetic Test
offered by
GTR Test Accession: Help GTR000530115.2
Last updated in GTR: 2023-01-16
Last annual review date for the lab: 2023-01-17 Past due LinkOut
At a Glance
Diagnosis; Drug Response; Monitoring; ...
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
Genes (1): Help
EOMES (3p24.1)
Molecular Genetics - Sequence analysis of select exons: Bi-directional Sanger Sequence Analysis; ...
Not provided
Not provided
Ordering Information
Offered by: Help
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
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 mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Post-test genetic counseling required: Help
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: 2
Method Category Help
Test method Help
Sequence analysis of select exons
Bi-directional Sanger Sequence Analysis
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Iontorrent PGM
Clinical Information
Test purpose: Help
Diagnosis; Drug Response; Monitoring; Mutation Confirmation; Predictive; Prognostic; Risk Assessment; Screening
Target population: Help
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

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. Whenever the status of a genetic variation is changed we will contact the requesting professional if he/she is not available the department will be contacted
Is research allowed on the sample after clinical testing is complete? Help
Recommended fields not provided:
Technical Information
Test Procedure: Help
Sanger sequencing
Test Confirmation: Help
Sanger sequencing
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Accuracy 99%, Sensivity 99%, Specificity 100%, Precision 99%
Assay limitations: Help
Contaminated DNA, impure DNA, limited sample amount.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

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
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:
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.