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OriginalDx

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← SequenceMedicine
OriginalDx, PLLC · Precision Primary Care & Clinical Genomics

The Diagnostic
Endpoint

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.

~53% Average Diagnostic Yield
20 Organ Systems
80 Peer-Reviewed References
95% Peak Diagnostic Yield
Who We Serve

Two Doors, One Destination

You arrive at OriginalDx either searching for a diagnosis or already carrying one. Either way, this is where precision medicine becomes your primary care.

Still Searching

End the Diagnostic Odyssey

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.

  • Comprehensive genomic evaluation across 20 organ systems
  • Phenotype-driven test selection: panels, exome, genome, or multimodal
  • ACMG/AMP-guided variant interpretation with full clinical correlation
  • Definitive diagnosis or structured characterization of the unknown
  • Transition into ongoing precision care once the answer is found
Already Diagnosed

Live with Precision

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.

  • Genomics-informed primary care with every visit
  • Pharmacogenomic-guided prescribing—the right drug, the right dose
  • Proactive surveillance based on your specific variant and phenotype
  • Care coordination with specialists who understand your condition
  • Variant reclassification monitoring and family cascade testing
The Problem

The Diagnostic Odyssey Is Abusive Medicine

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.

5–7 years

Average Diagnostic Odyssey

Before a molecular diagnosis is reached, patients cycle through years of specialist referrals, empiric therapies, and exploratory procedures that yield no answers.

7+ specialists

Before Diagnosis

Patients see an average of seven or more specialists before someone orders the right test. Each visit generates cost, complexity, and suffering without resolution.

$1 trillion

Annual Cost Burden

Rare disease represents the single largest identifiable category of inappropriate utilization in the U.S. healthcare system. The spend is real and measurable.

30 million

Americans Affected

Rare diseases are not rare in aggregate. Collectively, they affect roughly one in ten Americans—most of whom lack a definitive molecular diagnosis.

What We Do

Diagnosis. Treatment. Continuity.

Three service lines that span the full arc from undiagnosed to lifelong precision care.

Diagnostic Resolution

Comprehensive Genomic Workup

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 yield
Rapid Genomic Sequencing

Critical Care Diagnostics

NICU 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 TAT
Precision Primary Care

Primary Care That Knows Your Genome

Most physicians treat symptoms. We treat the system that produced them—informed by your molecular identity from the first visit forward.

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Pharmacogenomics

Every prescription decision filtered through your PGx profile. No more trial-and-error dosing. The right drug at the right dose from the start.

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Genotype-Guided Surveillance

Screening and monitoring protocols tailored to your specific variants. Proactive, not reactive—we watch for what your genome tells us to watch for.

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Polygenic Risk Integration

Common disease risk scores integrated into preventive care decisions. Cardiovascular, metabolic, oncologic—your risk profile shapes your care plan.

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Specialist Coordination

We serve as the genomic hub for your specialist network. Every referral carries your molecular context. Every recommendation is synthesized through one physician.

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Family Genomics

Cascade testing, carrier screening, preconception counseling, and family variant monitoring. Your diagnosis informs care for every generation.

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Variant Reclassification

Genomics is not static. We monitor your variants for reclassification, reanalyze as databases grow, and update your care plan as the science evolves.

Direct-Pay Access

Your Genome Deserves a Dedicated Physician

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.

Precision Care Membership

The Covenant

$500–$750/mo individual
$900–$1,350/mo per family
  • Dedicated clinical geneticist as your primary physician
  • Unlimited office visits with extended appointments
  • Direct physician phone, text, and secure messaging
  • Annual comprehensive genomic health review
  • Pharmacogenomic-guided prescribing
  • Genotype-specific surveillance protocols
  • Polygenic risk score integration into preventive care
  • Priority scheduling and same-day access
  • Specialist coordination with genomic context
  • Variant reclassification monitoring
  • Family cascade testing coordination
  • Superbill provided for potential OON reimbursement
Schedule a Conversation
Diagnostic Case · No Membership Required

Diagnostic Evaluation

$1,500 comprehensive evaluation
Lab/sequencing costs billed separately by reference lab
  • Full clinical genetics evaluation
  • Phenotype-driven test selection and ordering
  • Variant interpretation and clinical correlation
  • Results disclosure and genetic counseling
  • Management recommendations and referral plan
Start a Case
Per-Visit · No Membership Required

Genetics Consultation

$500–$800/visit
60–90 minute appointments
  • Single-visit genetic consultation
  • Outside test interpretation and second opinions
  • Variant reclassification review
  • Superbill provided
Book a Visit
Service Menu

À La Carte Genomic Services

Available to members and non-members. All prices include consultation, test ordering, interpretation, and results disclosure. Lab costs billed separately.

Genomic Sequencing & Cytogenetics

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

Screening & Risk Assessment

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

Biochemical Genetics

Comprehensive Metabolomic Panel$2,500
Lysosomal Enzyme Panel$800
Peroxisomal Studies$600
Plasma Amino Acids$500
Urine Organic Acids$500
Acylcarnitine Profile$400

Interpretation, Reanalysis & Packages

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
The Evidence

Diagnostic Yield Across 20 Organ Systems

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.

58–95%DermatologicTier 1
88–90%Metabolic / IEMTier 1
50–89%MusculoskeletalTier 1
49–92%OphthalmicTier 1
47–80%PulmonaryTier 1
46–81%NephrologyTier 1
43–58%NeurologicalTier 1
42–69%SkeletalTier 1
39–67%AuditoryTier 1
32–67%CardiovascularTier 1
28–59%EndocrineTier 1
27–41%DevelopmentalTier 1
25–64%GastrointestinalTier 1
25–60%HepaticTier 1
15–79%ImmunologicTier 1
17–18%Connective TissueTier 1
15–84%CraniofacialTier 1
15–79%LymphaticTier 1
9–57%PsychiatricTier 2
1.5–60%ReproductiveTier 2
34–59%NICU (rGS)Clinical Setting
31–59%PICU / CICUClinical Setting
The Process

From Referral to Resolution to Ongoing Care

The diagnostic endpoint is not the end of the relationship—it is the beginning of precision primary care.

01

Referral

Provider referral or self-referral with clinical documentation and prior workup.

02

Phenotyping

Comprehensive evaluation, three-generation pedigree, and systematic phenotype characterization.

03

Testing

Evidence-driven strategy: panel, exome, genome, or multimodal approach matched to indication.

04

Diagnosis

ACMG/AMP-guided interpretation, results disclosure, management recommendations, and cascade plan.

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Precision Care

Transition into ongoing genomics-informed primary care. Your diagnosis shapes every visit forward.

For Referring Providers

Send Us Your Undiagnosed

We take the diagnostic complexity off your desk and return a definitive answer—or a clear characterization of what remains unknown and why.

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What to Send

Clinical summary, prior genetic testing results, relevant imaging and labs, family history. We accept referrals from any specialty.

What to Expect

Intake within 5 business days. Standard turnaround 4–8 weeks. Rapid critical care: 3–9 day TAT. Full report returned to referring provider.

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What We Return

Molecular diagnosis or detailed negative report. Management plan. Genetic counseling summary. Cascade testing recommendations. Option for ongoing precision primary care.

For Payers

Genetic Testing Is a Utilization Management Tool

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.

The Cost-Elimination Case

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.

53%average diagnostic yield across organ systems
80%management change rate in PICU/CICU
25%length-of-stay reduction in NICU with rGS

CarePathway Integration

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.

What We Measure

DYDiagnostic yield by organ system and indication
TTDTime-to-diagnosis vs. historical baseline
URRUtilization reduction rate post-diagnosis
MCRManagement change rate (% altering care plan)

Precision Primary Care ROI

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.

The Practice

About OriginalDx

Patrick Long, MD

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.

The Ecosystem

OriginalDx, PLLC Precision Primary Care + Diagnostics
Americana Medical, PLLC Concierge Primary Care + Genetics
LongGenetics, PLLC In-Network Clinical Genetics
Meridian MSO Practice Management + Operations
SequenceMedicine Platform + Evidence + Strategy
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The Odyssey Ends.
Precision Care Begins.

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.