• Learns and consistently follows the approved standard operating procedures for performing data analysis and case management, communicating with technical and non-technical staff, and record-keeping.

• Follows established procedures on routine work and may require assistance; requires instructions on new assignments or
  scenarios.

• Applies acquired job skills and company policies and procedures to complete assigned tasks.

• Works on cases that are semi- routine in nature but recognizes the need for occasional deviation from typical scenarios and seeks guidance as needed

• Always is able to document that proficiency testing is performed in the same manner as patient testing.

• Meets or exceeds target workload with high accuracy and attention to detail.

• Specific tasks for this job in this section may include the following:
  • Case Analysis – Efficiently analyzes all generated genomic data (ABI, NG, Exon Array, MLPA, qPCR, Chromosomal
    Microarray, etc.) and completes all analysis related steps according to standard procedures. Performs at a
    consistent level of analysis by completing a reasonable number of analysis steps with minimal errors. Reliably
    identifies variants meeting confirmation criteria and sends them for confirmation using appropriate methods, as
    applicable. Identifies novel situations and seeks prompt and appropriate advice on how to proceed. Makes sure all
    relevant aspects of a case are complete and either sends them for variant curation or logs them out, as
    appropriate. Documents all errors and non-conforming events. Contributes to ongoing process improvement.
  • Case Management – Efficiently prioritizes case analysis and all related aspects in order to move cases through
    analysis as seamlessly as possible. Interacts with all staff effectively, trying to use proactive communication
    approaches.
  • Development – Assists P&D, TT&V and Clinical departments in data analysis for new test development as needed.

• Other related duties as assigned.

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Science - Minded, Patient - Focused.

At GeneDx, we create, follow, and are informed by cutting-edge science. With over 20 years of expertise in diagnosing rare disorders and diseases, and pioneering work in the identification of new disease-causing genes, our commitment to genetic disease detection, discovery, and diagnosis is based on sound science and is focused on enhancing patient care.

Experts in what matters most.

With hundreds of genetic counselors, MD/PhD scientists, and clinical and molecular genomics specialists on staff, we are the industry's genetic testing experts and proud of it. We share the same goal as healthcare providers, patients, and families: to provide clear, accurate, and meaningful answers we all can trust.

SEQUENCING HAS THE POWER TO SOLVE DIAGNOSTIC CHALLENGES.

From sequencing to reporting and beyond, our technical and clinical experts are providing guidance every step of the way:

TECHNICAL EXPERTISE

• High-quality testing: Our laboratory is CLIA certified and CAP accredited and most of our tests are also New York State approved.
• Advanced detection: By interrogating genes for complex variants, we can identify the underlying causes of conditions that may otherwise be missed.

CLINICAL EXPERTISE

• Thorough analysis: We classify variants according to our custom adaptation of the most recent guidelines. We then leverage our rich internal database for additional interpretation evidence.
• Customized care: Our experts review all test results and write reports in a clear, concise, and personalized way. We also include information for research studies in specific clinical situations.
• Impactful discovery: Our researchers continue working to find answers even after testing is complete. Through both internal research efforts and global collaborations, we have identified and published hundreds of new disease-gene relationships and developed novel tools for genomic data analysis. These efforts ultimately deliver more diagnostic findings to individuals.

Learn more About Us here.

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Essential on-site and customer facing employees may be required to provide proof of COVID-19 vaccinations. Such employees may request exemptions for medical conditions or religious beliefs.

Benefits include:

• Paid Time Off (PTO)
• Health, Dental, Vision and Life insurance
• 401k Retirement Savings Plan
• Employee Discounts
• Voluntary benefits

GeneDx is an Equal Opportunity Employer.

All privacy policy information can be found here.