Diagnostic Process

Seek Medical Care

Knowing where to start the diagnostic process can be hard. For many, it begins at a front-line health care service, such as a primary care doctor's office, urgent care center, or an emergency room. A diagnosis may become clear through these visits or only after specialized testing and referrals.
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Diagnostic Process Overview

Gather Information
A doctor will collect important healthcare information from the patient, medical records, physical exam, and tests.
Consider the Information
A doctor will work to make sense of all the information. They may find there is a disease that is the most likely diagnosis.
Test the Working Diagnosis
A doctor will plan the next steps to confirm a diagnosis. Steps may include ruling out other diseases and specialist referrals.

Discuss Treatment Options

During the diagnostic process, meeting regularly with a doctor may be helpful and necessary. A primary care physician (PCP) or specialist may offer treatment options to manage symptoms during the diagnostic process. Doctors may also provide connections to local support resources, mental health support, and research opportunities.
Rare Disease Diagnostic Journey
Why are rare diseases hard to diagnose?
  • A single symptom can be related to many different diseases.
  • Doctors may not have experience with a rare disease.
  • Information about the disease may be limited.
How can the diagnostic journey be shortened?
  • Find doctors who are easy to talk to and understand.
  • If possible, seek care at a major hospital or academic medical center.

Building a Medical Team

Building a medical team can help speed diagnosis and improve medical care. The primary care physician (PCP) is usually the center of the team. The involvement of other specialists depends on the type of symptoms or the need for special evaluations or treatments. The need for different specialists may change over time. Members of the medical team for this disease may include:

A primary care provider (PCP) is a medical care provider who is focused on the overall health of their patients. PCPs see patients for new or ongoing health problems. PCPs can provide referrals to specialists and can help manage and coordinate overall medical care.

Types of PCPs include doctors practicing general medicine, family practice, pediatrics, internal medicine, and obstetrics/gynecology. A nurse practitioner (NP) or a physician assistant (PA) may be the PCP in some practices.

A pediatrician is a doctor who has specialized training to care for the overall health and development of children from birth to young adulthood. Pediatricians are a type of primary care doctor.

Specialists in pediatrics may do extra training to provide a diagnosis, treat, and care for children who have a disease within a specific specialty field. For example, there are pediatric cardiologists, pediatric dermatologists, and pediatric geneticists.

A medical geneticist is a doctor who has specialized training in diagnosing, treating, managing, and counseling individuals who either have, or are at risk, for diseases caused by a genetic change. They also evaluate and care for individuals with birth defects, metabolic diseases, and diseases caused by the interaction of genetic and environmental factors.

A genetic counselor is not a doctor, but has received specialized training in medical genetics and counseling. They commonly discuss family history, genetic risks, genetic testing options, and genetic test results.

A medical oncologist is a doctor who has specialized training in diagnosing, treating, and managing cancers and malignant and benign tumors.

Surgeons, radiologists, pathologists, and other specialists often work with oncologists to care for the patients. 

An endocrinologist is a doctor who has specialized training in diagnosing, treating, and managing diseases related to glands, hormones, and metabolism.

A dermatologist is a doctor who has specialized training in diagnosing, treating, and managing diseases that affect the skin, hair, and nails.

Resources to find a provider:

Choosing a Doctor [MedlinePlus]

Provides resources with information to consider when choosing a doctor or health care service.

Referral Directory [MedlinePlus]

Provides links to directories to help find PCPs, specialists, medical services, and facilities.

Find Healthcare Providers [Centers for Medicare & Medicaid Services]

Provides online resources to find and compare local hospitals, nursing homes, and other providers that accept Medicare and Medicaid.

Getting a Diagnosis

Medical History and Physical Exam

Medical History and Physical Exam

Genetic Testing

Clinical Procedures

Laboratory Tests


Renal phosphate wasting


Imaging Studies

Document Personal Medical History


Document Personal Medical History

Collect Family History

Prepare Questions

Plan for the End of the Visit

No Diagnosis

Working Diagnosis

Confirmed Diagnosis

Last Updated: Nov. 8, 2021