Information for Providers

Information for Providers

Reasons for referral:

A referral to the genetics clinic is appropriate whenever you have a patient or family member in which you would like to rule out a genetic condition. Common indications for referral include:

• Unexplained developmental delay
• Mental retardation
• One or more congenital anomalies
• Dysmorphic features
• Metabolic disorders, including follow-up of newborn screen results
• Connective tissue disorders
• Skeletal dysplasias
• Vision or hearing loss
• Family history of a genetic condition, including Neurofibromatosis, familiar cancer syndromes, and neurodegenerative disorders

A wide variety of medical conditions have a genetic component, ranging from single gene disorders to more complex genetic diseases in which the etiology is believed to be a result of a combination of both genetic and environmental factors. We welcome inquiries into family history analysis and risk assessment.

How to make a referral:

If you would like to make a referral to the Medical Genetics Clinic, please call (410) 955-3071 and ask to speak with one of the genetic counselors. If your office generates a printed referral form, please fax it to our office, along with any relevant medical records, at (410) 614-9246. In either case, we would appreciate as much information as possible about the clinical or laboratory findings which resulted in the genetics referral.

IMPORTANT NOTE: Please make sure that the patient's referral covers both the genetics evaluation and any potential investigational studies that may need to be performed, including biochemical testing, genetic testing, and radiological studies, as needed.

During the genetics evaluation:

For new patients, the genetics evaluation includes a three-generation family history, medical history, physical exam, and recommendations for laboratory testing and other evaluations. Laboratory tests include genetic and biochemical testing. Some of the more common tests recommended include blood chromosome analysis, comprehensive metabolic panel, plasma amino acids, and urine organic acids. DNA testing may be offered for a particular condition when available on a clinical basis. Although we prefer to perform most recommended testing immediately following the clinical evaluation, patient insurance coverage may necessitate that the labs be performed following the visit by the patient's PCP or by an outside laboratory.

After the genetics evaluation:

After the evaluation, a clinic note will be written which includes a review of the findings, test results, genetic risk assessment and counseling review, as well as follow-up recommendations. The clinic note will be mailed to the patient, the patient's primary care physician, and the referring physician. Physicians within Hopkins may access the clinic note on the Electronic Patient Record (EPR) system.

Contact information:

Office hours: Monday through Friday, 9:00 AM to 5:00 PM

Phone: (410) 955-3071

Fax: (410) 614-9246

After hours or in an emergency, page genetics fellow on call at (410) 955-6070, or call the Johns Hopkins Hospital main telephone number at (410) 955-5000 and ask for the genetic doctor on call.