Genetic Testing and 46,XY Partial Gonadal Dysgenesis: Unveiling the Genetic Mysteries
Incomplete gonadal development in an XY child may bring ambiguous genitalia; an NR5A1 splice-site variant in an Estonian family showed incomplete penetrance.
Brandon Colby, MD
MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
About Brandon
Brandon Colby is a physician-expert in the fields of genetic analysis and Personalized Preventive Medicine. He holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University's Graduate School of Business, and a degree in Genetics from the University of Michigan.
Dr. Colby is the author of the book Outsmart Your Genes and has developed numerous technologies that improve the analysis, interpretation, and actionability of genome sequencing data. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC).
Education
- BA in Genetics with Honors, University of Michigan · 2000
- MD, Mount Sinai School of Medicine · 2004
- MBA, Stanford University Graduate School of Business · 2007
Affiliations & Memberships
- Affiliate Specialist, American College of Medical Genetics and Genomics (ACMG)
- Associate, American College of Preventive Medicine (ACPM)
- Member, National Society of Genetic Counselors (NSGC)
Articles by Brandon Colby, MD are reviewed for accuracy by Sequencing's medical and scientific team. This page is for informational purposes and does not constitute medical advice.
Articles by Brandon
Decoding 5q14.3 Microdeletion Syndrome: Genetic Testing as a Beacon of Hope
Loss of a segment at 5q14.3 can bring developmental delay, intellectual disability and distinctive facial features; microarray or exome testing confirms it.
Alagille Syndrome: Unraveling the Genetic Threads of a Complex Disorder
Confirming a JAG1 point mutation supports earlier treatment of the liver, heart, eye and skeletal problems that make this autosomal dominant disorder hard to recognize.
Genetic Insights into Aldosterone-Producing Adrenal Cortex Adenoma
Secondary hypertension can trace back to an adrenal cortex adenoma making too much aldosterone, and KCNJ5 testing supports earlier diagnosis and family screening.
Alpha-N-acetylgalactosaminidase Deficiency: Unraveling the Genetic Code
Without working alpha-N-acetylgalactosaminidase, glycoproteins collect inside lysosomes, producing developmental delays, skeletal abnormalities and organ dysfunction.
Advancements in Anaplastic Ependymoma: Harnessing Genetic Testing for Better Outcomes
Starting in the ependymal cells that line the brain's ventricles, this aggressive tumor is profiled with next-generation sequencing to guide drug choice.
Anaplastic Oligodendroglioma: A Genetic Odyssey in Brain Tumor Diagnosis
A grade III glioma of the oligodendrocytes, it is tested by FISH or NGS for 1p/19q co-deletion, a marker tied to better prognosis and PCV chemotherapy.
Angiosarcoma: Unraveling the Genetic Threads of a Complex Cancer
Cancer of the lining of blood and lymph vessels turns up most often in skin, breast, liver and spleen; HrasG12V is among the mutations testing can detect.