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.
Salesforce Alt Text

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 neurologist is a doctor who has specialized training in diagnosing, treating, and managing diseases and impaired function of the nervous system and the muscles and blood vessels related to this system. The nervous system includes the brain, spinal cord, and the peripheral nervous system including the autonomic nervous system.

A cardiologist is a doctor who has specialized training in diagnosing, treating, and managing diseases that affect the heart and blood vessels.

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

Newborn Screening

Genetic Testing

Clinical Procedures

Laboratory Tests

Hyperammonemia

Decreased plasma carnitine

Dicarboxylic aciduria

Elevated creatine kinase after exercise

Elevated circulating acylcarnitine concentration

Hypoketotic hypoglycemia

Hypothermia

Imaging Studies

Document Personal Medical History

Resources:

Document Personal Medical History

Collect Family History

Prepare Questions

Plan for the End of the Visit

No Diagnosis

Working Diagnosis

Confirmed Diagnosis

Management and Treatment

Management and treatment of a disease often depends on the specific diagnosis and the type and severity of associated symptoms. A primary care provider (PCP) can help coordinate care when multiple specialists are involved. Understanding the risks and benefits of different options allows patients and families to play an active role in medical care decisions.
How does a diagnosis change disease management?

Ideally, published medical care guidelines are available for a diagnosed disease. Guidelines may include treatment options and tests needed to monitor symptoms or possible complications. But many rare diseases do not have medical guidelines because too little is known about the disease. In these cases, a doctor may base their management and treatment recommendations on current medical research and their experience treating similar diseases.

How can managing symptoms be helpful?

The goal of managing symptoms is to improve the quality of life of patients by decreasing or eliminating troubling symptoms. Treatment of symptoms (symptom management), may include medications; clinical procedures; diet management; physical, occupational, and speech therapy; or supportive care. Symptom management may be recommended when there is no confirmed diagnosis or no disease-specific treatment, but it may also be suggested in addition to a disease-specific treatment.

Is there an FDA-approved treatment for this disease?

This section is currently in development. We recommend speaking with a doctor to learn more about possible treatment of this disease and the associated symptoms.

Last Updated: Nov. 8, 2021