Dr. Perlstein received his Medical Degree from the University of Cincinnati and then completed his internship and residency in pediatrics at The New York Hospital, Cornell medical Center in New York City. After serving an additional year as Chief Pediatric Resident, he worked as a private practitioner and then was appointed Director of Ambulatory Pediatrics at St. Barnabas Hospital in the Bronx.
Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.
The sweat chloride test is a common and simple test used to evaluate a patient who is suspected of having cystic fibrosis (CF), the most common lethalgenetic disease affecting Caucasians. Cystic fibrosis is often clinically suspected when there is poor growth during infancy or recurrent serious intestinal or respiratory diseases in a toddler or young child. The genetic defect in cystic fibrosis affects the way chloride moves in and out of cells, and sweat contains chloride in the form of
sodium chloride (salt). Measurement of the chloride in sweat has been the standard method for diagnosing cystic fibrosis for over 40 years. Because cystic fibrosis is so common, many states include testing for the cystic fibrosis gene as part of the Newborn Screen; however, sweat testing is still required to confirm the diagnosis.
Cystic fibrosis is a disease of the mucus and sweat glands. Cystic fibrosis is an inherited disease. The outcome of the disease leaves the body malnourished, bulky and fouls smelling stools, vitamin insufficiency, gas, painful or swollen abdomen, infertility, susceptible to heat emergencies, and respiratory failure. There is no cure for cystic fibrosis, treatment of symptoms is used to manage the disease.
Genetic disease is a disorder or condition caused by abnormalities in a person's genome. Types of genetic inheritance include single inheritance (for example, cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis), multifactoral inheritance, chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
What are genetic professionals and what do they do?
Genetics professionals are health care professionals with specialized degrees
and experience in medical genetics and counseling. Genetics professionals
include geneticists, genetic counselors and genetics nurses.
What is genetic counseling and evaluation?
Genetic professionals work as members of health care teams providing
information and support to individuals or families who have genetic disorders or
may be at risk for inherited conditions. Genetic professionals:
Assess the risk of a genetic disorder by researching a family's history and
evaluating medical records.
Weigh the medical, social and ethical decisions surrounding genetic
testing.
Provide support and information to help a person make a decision about
testing.
Interpret the results of genetic tests and medical data.
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