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Where odysseys end and precision care begins.
Whether you carry a genetic diagnosis or are still searching for one, OriginalDx is the destination—a practice built entirely around genomics-informed medicine. We find the answer, then we build your care around it. For life.
You arrive at OriginalDx either searching for a diagnosis or already carrying one. Either way, this is where precision medicine becomes your primary care.
You have been through years of specialists, inconclusive tests, and empiric treatments. You know something is wrong, but no one has found the molecular answer. We will.
You have a genetic diagnosis. Now you need a physician who understands it—not one who looks it up while you wait. OriginalDx is primary care built on your molecular identity.
Rare diseases affect 30 million Americans and cost the U.S. healthcare system $1 trillion annually. Most of that cost is waste—years of searching for an answer that already exists in the genome.
Before a molecular diagnosis is reached, patients cycle through years of specialist referrals, empiric therapies, and exploratory procedures that yield no answers.
Patients see an average of seven or more specialists before someone orders the right test. Each visit generates cost, complexity, and suffering without resolution.
Rare disease represents the single largest identifiable category of inappropriate utilization in the U.S. healthcare system. The spend is real and measurable.
Rare diseases are not rare in aggregate. Collectively, they affect roughly one in ten Americans—most of whom lack a definitive molecular diagnosis.
Three service lines that span the full arc from undiagnosed to lifelong precision care.
For undiagnosed patients: clinical genetics evaluation, phenotype-driven test selection, exome or genome sequencing, variant interpretation, and results disclosure. The complete diagnostic arc in a single coordinated episode.
27–95% diagnostic yieldOngoing primary care anchored in your molecular profile. Pharmacogenomic prescribing, genotype-guided surveillance, proactive management, and a physician who carries your complete genomic context into every encounter.
Longitudinal · ContinuousNICU and PICU/CICU rapid whole genome and exome sequencing for critically ill neonates and children. Median turnaround of 3–9 days. Diagnosis changes management in 80% of positive cases.
34–59% yield · 3-day TATMost physicians treat symptoms. We treat the system that produced them—informed by your molecular identity from the first visit forward.
Every prescription decision filtered through your PGx profile. No more trial-and-error dosing. The right drug at the right dose from the start.
Screening and monitoring protocols tailored to your specific variants. Proactive, not reactive—we watch for what your genome tells us to watch for.
Common disease risk scores integrated into preventive care decisions. Cardiovascular, metabolic, oncologic—your risk profile shapes your care plan.
We serve as the genomic hub for your specialist network. Every referral carries your molecular context. Every recommendation is synthesized through one physician.
Cascade testing, carrier screening, preconception counseling, and family variant monitoring. Your diagnosis informs care for every generation.
Genomics is not static. We monitor your variants for reclassification, reanalyze as databases grow, and update your care plan as the science evolves.
OriginalDx is a self-pay practice. You pay for access, expertise, and time—and we honor that trust with medicine that no insurance-driven model can deliver. HSA and FSA accepted.
Available to members and non-members. All prices include consultation, test ordering, interpretation, and results disclosure. Lab costs billed separately.
| Whole Genome Sequencing (WGS) | $3,500 |
| Whole Exome Sequencing (WES) | $2,500 |
| RNA Sequencing (VUS resolution) | $3,000 |
| Optical Genome Mapping | $2,500 |
| Mitochondrial DNA Sequencing | $2,000 |
| Gene Panel (targeted) | $1,200 |
| Chromosomal Microarray | $1,200 |
| Karyotype | $1,000 |
| Rapid Genome/Exome (NICU/PICU, 3–9 day TAT) | $5,000 |
| Pharmacogenomics (PGx) Panel | $1,000 |
| Polygenic Risk Score Panel | $1,000 |
| Cancer Predisposition Panel | $1,000 |
| Carrier Screening | $1,200 |
| Hereditary Disease Screen | $1,200 |
| Nutrigenomics Panel | $800 |
| Epigenetic Aging Assessment | $600 |
| Comprehensive Metabolomic Panel | $2,500 |
| Lysosomal Enzyme Panel | $800 |
| Peroxisomal Studies | $600 |
| Plasma Amino Acids | $500 |
| Urine Organic Acids | $500 |
| Acylcarnitine Profile | $400 |
| Exome/Genome Reanalysis | $1,200 |
| Diagnostic Second Opinion | $800 |
| Outside Test Interpretation | $600 |
| Family Variant Interpretation & Counseling | $600 |
| Genetic Counseling Session (60 min) | $400 |
| Cascade Testing (per family member) | $350 |
| Preconception Genetic Bundle (2 carrier screens + 2 PGx + counseling) | $2,500 |
| Executive Genomic Assessment (comprehensive physical + full genomic workup) | $5,000 |
Published diagnostic yield data supported by 80 peer-reviewed references. Tier 1 systems have strong evidence; Tier 2 have emerging data. Clinical settings show rapid sequencing impact.
The diagnostic endpoint is not the end of the relationship—it is the beginning of precision primary care.
Provider referral or self-referral with clinical documentation and prior workup.
Comprehensive evaluation, three-generation pedigree, and systematic phenotype characterization.
Evidence-driven strategy: panel, exome, genome, or multimodal approach matched to indication.
ACMG/AMP-guided interpretation, results disclosure, management recommendations, and cascade plan.
Transition into ongoing genomics-informed primary care. Your diagnosis shapes every visit forward.
We take the diagnostic complexity off your desk and return a definitive answer—or a clear characterization of what remains unknown and why.
Clinical summary, prior genetic testing results, relevant imaging and labs, family history. We accept referrals from any specialty.
Intake within 5 business days. Standard turnaround 4–8 weeks. Rapid critical care: 3–9 day TAT. Full report returned to referring provider.
Molecular diagnosis or detailed negative report. Management plan. Genetic counseling summary. Cascade testing recommendations. Option for ongoing precision primary care.
A single test costing $250–$3,000 can prevent $50,000–$500,000+ in unnecessary care over a patient’s lifetime. The economics are published.
Rare disease patients generate disproportionate utilization before diagnosis: ER visits, specialist cycling, empiric treatments, exploratory surgeries. A definitive molecular diagnosis collapses this entire downstream spend into a single answer.
CarePathways replace ad hoc test authorization with systematic, evidence-backed programs. Each pathway defines indication-specific entry criteria, bundles services into a single care episode, and produces measurable outcomes.
Bundled episode payments align incentives around diagnostic resolution. Shared savings models let payers recoup downstream cost avoidance. ROI measurable within 12–24 months.
Beyond the diagnostic event, ongoing genomics-informed primary care reduces total cost of care: pharmacogenomic prescribing eliminates adverse drug events, genotype-guided surveillance catches complications early, and coordinated specialty care eliminates redundant workups.
Contact us for a payer-specific model built on your population data.
OriginalDx, PLLC is a physician-owned precision primary care and clinical genomics practice founded on two convictions: that no patient should spend years searching for a diagnosis that a single test could provide, and that once found, that diagnosis should anchor every aspect of their ongoing care.
We exist because the current system fails rare disease patients on both counts. First it subjects them to years of inappropriate utilization before diagnosis. Then, even after the molecular answer is found, it sends them back to providers who lack the genomic fluency to act on it.
OriginalDx closes both gaps. We are the diagnostic endpoint and the precision primary care home—one practice, one physician, one continuous relationship built on your molecular identity.
Whether you are a patient seeking answers, a family living with a diagnosis, a provider referring complexity, or a payer evaluating value—this is where genomics-informed medicine lives.
OriginalDx, PLLC is a professional limited liability company organized under the laws of the State of Colorado. All clinical services are provided by or under the supervision of licensed physicians. Genetic testing is performed by CLIA-certified reference laboratories. Results are interpreted in accordance with ACMG/AMP guidelines. OriginalDx is not an emergency facility. Diagnostic yield figures are drawn from published peer-reviewed literature and represent population-level data; individual results may vary.
OriginalDx is a cash-pay practice. Services are not billed to insurance. Superbills are provided for potential out-of-network reimbursement. HSA and FSA funds are accepted for all qualifying medical services. Membership fees are not eligible for insurance reimbursement; office visits and genetic services qualify as medical expenses for HSA/FSA purposes. Good Faith Estimates provided per the No Surprises Act. Colorado HB17-1115 establishes that direct primary care agreements are not insurance products.
CarePathway programs are available for health plan and health system partnerships. Contact [email protected] for program specifications. All patient data is handled in compliance with HIPAA. Genomic data remains patient property.