Distal Renal Tubular Acidosis, Recessive: Gene Tests
Fatigue, poor growth, kidney stones and sometimes hearing loss point to dRTA linked to ATP6V1B1, ATP6V0A4 or SLC4A1, with audiologic checks advised for children.
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 the Mystery: Understanding Dystonia, Intellectual Disability, and Language Impairment
Research summarised here links the movement, cognitive and communication problems to NR4A2, ADNP and NRXN1 findings, plus candidate genes in the 22q13 region.
Understanding, Diagnosing, and Using Genetic Testing for Early Infantile Epileptic Encephalopathy, Autosomal Dominant
Seizures in the first months of life, with developmental delay, mark Ohtahara syndrome; EEG, MRI and blood work come before gene testing that confirms the subtype.
Understanding, Diagnosing, and Using Genetic Testing for Early Infantile Epileptic Encephalopathy, Autosomal Recessive
Also called Ohtahara syndrome, EIEE is a severe epilepsy that starts in early infancy. In the recessive form, two carrier parents have a 25% risk per child.
Decoding the Mystery of Early-Onset Epileptic Encephalopathy: A Guide to Genetic Testing
Seizures and developmental delay in infancy have been traced to STXBP1, ARX, SLC25A22, KCNQ2, CDKL5, SCN1A and PCDH19; panels and sequencing options are compared.
Peering into the Genetic Realm: Understanding Evans Syndrome and TPP2 Deficiency
Autoimmune hemolytic anemia with immune thrombocytopenia, viral infections and early immune aging were traced in two siblings to a homozygous TPP2 frameshift mutation.
Understanding, Diagnosing, and Using Genetic Testing for Familial Atypical Mycobacteriosis, Autosomal Dominant
Faults in IFNGR1 or IFNGR2 leave the immune system unable to clear atypical mycobacteria, so skin, lymph node and lung infections recur; inheritance is dominant.
Unlocking the Secrets of Familial Atypical Mycobacteriosis: Genetic Testing and Beyond
Two faulty copies of IFNGR1 leave children open to severe mycobacterial infection, poor growth and anemia; carrier, prenatal and preimplantation testing are explained.