Mapping the Mystery: Genetic Testing for Mayer-Rokitansky-Kuster-Hauser Syndrome
An absent or underdeveloped uterus and upper vagina define MRKH syndrome; WNT4, LHX1 and HNF1B can be tested to support counseling and family risk assessment.
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
Mapping Meningioma: The Role of Genetic Testing in Understanding and Managing the Disease
Tumors arising from the meninges make up about 30% of primary brain tumors, and NF2 testing can shape treatment, including drugs studied for NF2-deficient tumors.
Metachromatic Leukodystrophy, Adult Type: Unlocking the Mysteries with Genetic Testing
In adults, metachromatic leukodystrophy often starts with depression, anxiety or behavior changes. ARSA mutations lower arylsulfatase A, and myelin is lost.
Late Infantile Metachromatic Leukodystrophy: ARSA Tests
Signs start between one and two years of age as arylsulfatase A deficiency lets sulfatides damage the nervous system; ARSA testing can open clinical trial doors.
Microform Holoprosencephaly: Unraveling the Genetic Threads of a Complex Condition
Because facial and cranial signs can be mild, diagnosis often rests on DNA analysis; a 7q36.3 deletion sparing the SHH gene has been reported in microform HPE.
Mitochondrial Mysteries: Decoding the Genetic Puzzle of Mitochondrial Neurogastrointestinal Encephalomyopathy
TYMP mutations leave thymidine phosphorylase in short supply, causing gastrointestinal dysmotility, peripheral neuropathy and leukoencephalopathy that can mimic Crohn's.
Mapping the Mysteries: Genetic Testing for Mitochondrial Oxidative Phosphorylation Disorder
Energy production falters when mitochondrial or nuclear genes are altered; in the COXPD23 subtype, a GTPBP3 variant found in an infant caused lactic acidosis.
Multiple Endocrine Neoplasia: The Role of Genetic Testing in Modern Diagnosis
Overproduction of hormones from tumors in several endocrine glands defines MEN, which splits into types 1, 2A and 2B; RET testing and clinical criteria both feature.