In this episode, Ryan sits down with two of the top experts in the field to break down what galactosemia test results actually mean. Joining the show are Dr. Tricia Hall, a biochemical genetics lab director at Mayo Clinic who oversees and signs out galactosemia lab results, and Dr. Michael Gambello, a clinical geneticist at Emory University with decades of experience helping families understand metabolic diagnoses. Together, they explain GAL-1P, gene variants like Q188R and L195P, newborn screening false positives, and how to actually read a test result from start to finish.
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Guest Bios:
Dr. Tricia Hall
Tricia Hall, PhD, is a biochemical genetics laboratory director at the Mayo Clinic. She oversees galactosemia testing and personally reviews test results, ensuring they meet quality metrics before they are released. Her expertise includes interpreting enzyme activity, GAL-1-P levels, and coordinating molecular data with clinical findings to support accurate diagnoses.
Dr. Michael Gambello
Michael Gambello, MD, PhD, is a clinical geneticist and professor at Emory University with more than 25 years of experience working with families affected by rare metabolic conditions. He specializes in translating complex genetic data into actionable, understandable insights for patients and caregivers. He is also a frequent collaborator on galactosemia research and a colleague of Dr. Judy Fridovich-Keil.
Episode Chapters:
00:00 Introduction
01:30 Meet the Guests: Dr. Hall and Dr. Gambello
05:42 What Lab Directors Actually Do
07:58 From Blood to Result: The Testing Process Explained
10:29 What GAL-1-P and GALT Levels Really Tell Us
13:45 Gene Basics 101: How Mutations Affect Proteins
18:22 Breaking Down Variant Reports (e.g. p.L195P and Q188R)
26:08 Recessive Inheritance and Carrier Status
30:25 Why Some Labs Use GAL-1-P and Others Use Galactitol
34:10 False Positives in Newborn Screening
39:12 Why You Might Be Told “It’s Probably Nothing”
42:48 Should Parents Request Extra Testing?
47:00 How Many Variants Can Cause Galactosemia?
49:20 Real Test Reports: Reading Line by Line
56:44 Creating Better Awareness and Advocacy
59:30 Final Thoughts and Takeaways
