Understanding Hydrolethalus Syndrome: Diagnosis and the Role of Genetic Testing
HYLS1 mutations disturb cilia and lead to hydrocephalus, polydactyly and facial dysmorphism. Prenatal ultrasound, exome sequencing and carrier screening are explained.
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
Understanding, Diagnosing, and Using Genetic Testing for Hyperinsulinemic Hypoglycemia
Confusion, sweating and seizures can accompany the excess insulin of hyperinsulinemic hypoglycemia. Blood tests, imaging and ABCC8 or KCNJ11 testing are covered.
Understanding, Diagnosing, and Utilizing Genetic Testing for Hypomaturation-Hypoplastic Amelogenesis Imperfecta with Taurodontism
Enamel that is thin, soft and poorly mineralized appears with taurodontism, an enlarged tooth body and short roots, seen on radiographs and gene analysis.
Hypothyroidism: Symptoms, TSH Testing and Genetic Causes
Low thyroid hormone brings fatigue, weight gain and cold intolerance; TSH and free T4 blood tests and TSHB findings in congenital central cases are explained here.
Understanding, Diagnosing, and Using Genetic Testing for Idiopathic Generalized Epilepsy
Absence, myoclonic and tonic-clonic seizures mark idiopathic generalized epilepsy, which likely has a genetic basis. SCN1A, GABRA1 and CLCN2 may contribute.
Invasive Breast Carcinoma: BRCA1, BRCA2 and HER2
Cancer that starts in the milk ducts or lobules and spreads into surrounding tissue is found by mammography, ultrasound, MRI and biopsy, then mapped by gene testing.
Understanding, Diagnosing, and Using Genetic Testing for Isolated Anhidrosis with Normal Sweat Glands
Heat intolerance and dry skin without sweating, despite structurally normal glands, are assessed by thermoregulatory sweat testing, skin biopsy and DNA analysis.
Understanding, Diagnosing, and Using Genetic Testing for LCAT Deficiency
Cholesterol processing fails without the LCAT enzyme, causing corneal opacities and kidney disease. Familial LCAT Deficiency and Fish Eye Disease are compared.