Catch me if you can: Biochemical testing strategies for the porphyrias

Better Health

Case 1: A 25-year-old female patient presents in the emergency room with severe abdominal pain, tachycardia and hypertension. Her medical record reveals that she has presented with the same symptoms several times over the last few years. Abdominal imaging and routine blood work have been normal. Case 2: A 60-year-old man presents with history of […]

Comprehensive Tick-Borne Illness Testing Leads to Better Patient Outcomes

Better Health

Ticks are expanding their habitat across the United States, leading to an increase in the prevalence of tick-borne illness. Since there are multiple types which vary regionally1 and co-infection with similar symptoms can occur, it can be challenging to determine which illness—or combination of illnesses—afflicts the infected person. In addition, patients are often unfamiliar with […]

Modified Two-Tier Testing (MTTT) Can Identify Early Lyme Disease in the First 30 Days

Better Health

Tick-borne disease is a growing problem across the country: According to the CDC, each year approximately 30,000 cases of Lyme disease are reported, but recent estimates show the number of people who may get Lyme disease each year in the United States is closer to 476,000.1 While some patients show symptoms such as fever, rash, […]

To Test or Not to Test. When Cancer Runs in my Family.

Better Health

Maybe you have lived through a cancer diagnosis with a close family member, just heard about a relative with some type of cancer, or you are just curious about your chance of having a hereditary cancer syndrome. In any case, you are wondering if you should be thinking about genetic testing. Now what? “Genetic testing” […]

Decisions, Decisions. Noninvasive Prenatal Testing OR Maternal Serum Screening OR both OR neither?

Better Health

When noninvasive prenatal testing (NIPT) first became a reality nearly a decade ago, many involved in the care of pregnant women (clinicians and laboratorians alike) saw it as a game-changer. They thought the standard screening option for chromosomal abnormalities, maternal serum screening (MSS), would soon be obsolete.  NIPT is a powerful test for Down syndrome […]

Thanks for the answer, but that wasn’t my question: The pros and cons of secondary findings.

Better Health

With the advent of exome and genome testing, laboratories began to identify changes in genes (variants) unrelated to the primary reason for genetic testing. These findings became known as “secondary findings.” There has been debate among providers since the American College of Medical Genetics and Genomics (ACMG) published and then revised their recommendations for a […]

MTHFR: Insights to Action

Better Health

M-T-H-F-R, 5 letters that often cause confusion among many healthcare professionals that stems from a large amount of conflicting information in the literature, as well as misinformation from the internet. Patients requesting MTHFR testing often do so after hearing that a family member tested “positive,” or after reading internet claims. MTHFR has been blamed for […]

Alzheimer’s Awareness Month

Better Health

For most of us, our memories are the most precious thing in the world—an incredible collection of experiences that have shaped us into the people we are today. But what happens when those memories are gone? I’ve experienced this personally with friends and family members. I’ve watched with my own eyes as someone I loved […]