More than a test for your patient
When to consider it: Consider whole genome sequencing as a first-line test for a child with intellectual disability, global developmental delay, congenital anomalies, or epilepsy of unknown etiology. Both ACMG and AAP support a genetics-first approach for these presentations. WGS returns a higher diagnostic yield than stepwise panel testing, in one test instead of a sequence. For many children it shortens a diagnostic odyssey that otherwise averages six years.
Adults, too. Adults with a lifelong undiagnosed condition are candidates. Diagnostic yield stays meaningful even decades later, and a result can still change management, screening, and family counseling.
What a result does and doesn't tell you. A negative result narrows your differential but doesn't rule out every genetic cause, and we tell your patient that plainly. Incidental findings are handled through an opt-in ACMG 84 screen. Nothing outside the reason for testing is returned unless the family chooses it.
Timing. Turnaround is about five weeks. Prior authorization timelines vary by payer, and we'll tell you where a plan actually stands rather than promise a number we can't hold.
What we take off your plate: kit logistics, sample collection, insurance coordination, prior authorization and appeals, and pre and post-test genetic counseling.
What still needs you: the order, and your judgment about whether this test fits this patient. You sign. We carry the rest.
What you receive: the full report, written to support a clinical conversation, not just a data file. Genetic counselors through our telehealth partner, DNAVisit, are available before and after the test. We stay available to your patient for next steps and hand the clinical relationship back to you. We're a resource to your practice, not a replacement for it.
Resources for Providers
Ordering whole genome sequencing shouldn't mean drowning in paperwork. The templates below are the ones our team uses every day to get these tests covered: prior authorization, letters of medical necessity, and appeals. Use them, or send us the case and we'll help you build it.
Available Templates
Request for Coverage Approval: Outpatient Diagnostic Whole Genome Sequencing (WGS).
This template can be used to provide rationale for coverage based on medical and Medicaid guidelines.
Sample Letter of Medical Necessity
A template to support providers in responding to payer requests for a letter of medical necessity.
Sample Letter of Appeal
A template to assist healthcare providers in appealing denials of coverage for genetic or genomic testing.
American College of Medical Genetics and Genomics (ACMG)
Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
American Academy of Pediatrics Guidelines
The American Academy of Pediatrics’ June 23, 2025 clinical report urges general pediatricians to use a genetics first approach when evaluating children with intellectual disability or global developmental delay. We recommend highlighting this when seeking authorizations and appeals, this can help educate payors on current medical standards.
Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders
A comprehensive evidence review shows that using genome sequencing as a first-line diagnostic test for rare genetic disorders significantly improves diagnostic yield and clinical decision-making compared with traditional stepwise testing, supporting earlier, more effective care.
Commonly Referenced Medical Guidelines
The Cost of Delayed Diagnosis in Rare Disease: A Health Economic Study
A landmark report showing the cost savings of receiving a more timely diagnosis in rare diseases. The economic impact of a delayed diagnosis is up to $517,000 in avoidable costs per patient. Shortening the more than six-year average diagnostic odyssey saves money for individuals, caregivers, and the healthcare system, while improving health outcomes.
Commonly Referenced Economic Justifications
Provider Support
If you have questions about these resources or would like support with a specific case, our team is available to help.
Email: info@jura.health
Phone: (888) 420-0507