Refer a Patient for Genetic Evaluation
OriginalDx is an in-network medical genetics practice. We accept most commercial insurance plans and Medicaid. New patients are typically seen within 2–4 weeks of referral.
How to Refer
What to Include
- Clinical indication for genetic evaluation
- Relevant prior workup and imaging
- Family history (pedigree if available)
- Patient's insurance information
Contact
Phone: (xxx) xxx-xxxx
Fax: (xxx) xxx-xxxx
Email: [email protected]
Turnaround: 2–4 weeks to first visit
When to Refer: Clinical Indications by System
Consider referral for genetic evaluation when the clinical presentation suggests a monogenic cause. Below are common indications organized by organ system.
Neurological
Unexplained epilepsy (especially infantile onset), progressive ataxia, hereditary neuropathy, movement disorders without acquired cause, leukodystrophy. Yield: 43–58%
Cardiovascular
Unexplained cardiomyopathy, early-onset arrhythmia, aortopathy, familial hypercholesterolemia, sudden cardiac death in family. Yield: 32–67%
Nephrology
Suspected Alport syndrome, CAKUT, cystic kidney disease, unexplained tubulopathy, recurrent nephrolithiasis with metabolic features. Yield: 46–81%
Developmental
Global developmental delay, intellectual disability, autism with dysmorphic features, multiple congenital anomalies. Yield: 27–41%
Metabolic
Abnormal newborn screen, suspected inborn error of metabolism, unexplained metabolic crisis, leukodystrophy. Yield: 88–90%
Connective Tissue
Suspected Ehlers-Danlos syndrome, Marfan syndrome, hereditary aortopathy, joint hypermobility with systemic features. Yield: 17–18%
Other Systems
We evaluate across 20 organ systems including dermatologic, ophthalmic, pulmonary, skeletal, auditory, endocrine, gastrointestinal, hepatic, immunologic, craniofacial, lymphatic, psychiatric, and reproductive. View full evidence grid →
Testing Capabilities
| Test | Yield Range | Turnaround | Best For |
|---|---|---|---|
| Exome Sequencing (ES) | 27–92% | 2–4 weeks | First-line for most suspected monogenic conditions |
| Genome Sequencing (GS) | Varies | 2–4 weeks | Structural variants, non-coding regions, ES-negative cases |
| Targeted Panels | Varies | 1–3 weeks | Well-defined phenotypes (e.g., cardiomyopathy, epilepsy) |
| Rapid ES/GS | 34–59% | 3–7 days | Critically ill neonates and children (NICU/PICU) |
| RNA Sequencing | Additive | 4–6 weeks | VUS resolution, aberrant splicing, ES/GS-negative |
| Chromosomal Microarray | 15–20% | 2–3 weeks | Developmental delay, congenital anomalies, CNVs |
| Reanalysis | 10–15% additional | 2–4 weeks | Prior ES/GS with no diagnosis; new gene-disease associations |
What Happens After Referral
Clinical Assessment
We see the patient, assess the clinical picture, review prior workup, and select the appropriate genetic test.
Insurance Authorization
We handle prior authorization with the patient's insurance. No burden on the referring practice.
Expert Interpretation
Results are interpreted by a board-certified medical geneticist — not just reported. Clinical significance is assessed in the context of the patient's phenotype.
Consultation Note
You receive a detailed note with molecular findings, clinical significance, and actionable management recommendations.
Ongoing Management
For diagnosed patients, we offer longitudinal primary care for the genetic condition. We don't just diagnose and discharge.
About Dr. Long
Patrick Long, MD is board-certified in both family medicine and medical biochemical genetics — a rare combination that bridges primary care continuity with deep genetic diagnostic expertise. Read more →