PATIENTS

Personalized Care for Every Patient

From evaluation and diagnosis to lifelong health management, SequenceMD provides quality, compassionate care for individuals with genetic and rare diseases.

PATIENTS

Personalized Care for Every Patient

From evaluation and diagnosis to lifelong health management, SequenceMD provides quality, compassionate care for individuals with genetic and rare diseases.

What You Can Expect from SequenceMD

1

Intake

20-minute call to confirm information, schedule, and answer basic questions

2

Evaluation

1-hour of evaluation and 30 minutes of genetic counseling

3

Results

30–90-minute visit (depending on results) with the genetic clinical team

What to Expect on Your First Visit

SequenceMD is located on the uptown medical campus in downtown Denver, Colorado. The clinic is located on the 6th floor of 1601 E. 19th Avenue in suite 6450 (the northwest corner of the Professional Plaza West building). The building offers free parking in the attached parking structure and the surrounding streets. Should you need help locating the office, please call 303-832-7109. Please bring with you any documentation you wish to share or you believe will help inform the conversation.

Click Here for directions to our office. 

Click Here for a campus map.

Types of Patient Care

Genetic Evaluation and Diagnosis
Health Management

Patient FAQs

So…you’ve been referred to genetics?

  • Many different patients are referred to us and the remarkably diverse and unique clinical presentations of our patients is a defining attribute in the clinical practice of medical genetics.

  • A genetic counselor is healthcare professional with specialized training in the medical and psychosocial aspects of genetics. Genetic counselors are trained to interpret medical histories, educate on genetics, and aid patients in the informed decision-making process.
  • Genetic counselors typically complete master’s degrees in genetic counseling, which include rotational clinical experience. Genetic counselors are certified by the American Board of Genetic Counseling (ABGC) by passing board exams and maintain certification through continued education.
  • A medical geneticist is a medical doctor that specializes in the diagnosis and management of rare inherited and genetic disorders in patients of all ages.
  • After 4-years of medical school, most geneticists completed a 3-year primary care or pediatric residency training and typically a 2-year genetics residency and sometimes complete a 1-year fellowship program to specialize in either inborn errors of metabolism or mitochondrial disease.

  • Some patients have one or more signs or symptoms that strongly suggest a specific genetic diagnosis. The majority of patients referred to a medical geneticist are sent by their primary care providers or other specialists to assist in the diagnostic work-up of challenging clinical cases, complex medical presentations, or subtle changes in physical anatomy. In addition, many patients with confusing and difficult to diagnose neurological disorders are commonly evaluated.

  • A genetic disorder occurs when there is a change detected in the DNA sequence or structure of the genome that disrupts the normal function of one or more cellular processes.
  • Genetic disorders may be inherited from one or both parents who may or may not be affected themselves. Genetic disorders may also be a result of a spontaneous genetic change that occurred in the sperm, egg, or embryo. Genetic testing can usually determine whether a patient’s genetic variant was inherited or de novo (new or spontaneous).
  • A trait is a physical characteristic arising from diverse combinations of genes that have no measurable impact on the individual’s health.

  • A genetic test is ordered when a physician recognizes one or more of the patient’s features and considers the possibility of a genetic disorder.
  • If the results of the genetic test correspond to a well-described diagnosis that also describes the patient’s clinical and historical features, then that patient has a “genetic diagnosis”.

  • A genetic diagnosis is one of the most informative diagnoses in medicine.
  • It allows patients and families to access important information about the natural history and prognosis of the disorder.
  • Some diagnoses may inform management or treatment options while others may help to redistribute the appropriate resources.
  • We are learning new things in the field of genetics every day. A genetic disorder with no treatment today might have multiple therapies available within a few years. The significance of a genetic diagnosis may change as we learn more and continue to add to the growing number of treatments.

  • 5-10% of the general population is estimated to be affected by a genetic disorder.

  • It is estimated that there are more than 10,000 genetic disorders resulting from a plethora of deleterious changes in the sequence or structure of the human genome. You can browse all the known single-gene disorders at the Online Mendelian Inheritance in Man website (OMIM.org).