Demystifying Congenital Myopathy 10B, Mild Variant: The Power of Genetic Testing
Hypotonia, delayed milestones and ophthalmoplegia mark this milder myopathy. Testing blood or saliva for SPEG and RBCK1 variants is less invasive than muscle biopsy.
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 Cryptozoospermia: Understanding, Diagnosing, and Genetic Testing for this Male Infertility Condition
Sperm appear only after a semen sample is centrifuged in cryptozoospermia, and karyotyping or AZF microdeletion testing can point to an underlying genetic cause.
Unraveling the Mysteries of Cystathioninuria: Genetic Testing and Beyond
When CTH changes impair cystathionine gamma-lyase, cystathionine builds up in the urine; most cases are benign, though some involve neurological symptoms or delays.
ADNSHL39-DDI1: Hearing Loss with Dentinogenesis Imperfecta
Hearing loss together with weak, discolored teeth marks ADNSHL39-DDI1, assessed through audiometry, dental examination, family history and gene testing.
Deafness, Autosomal Recessive 12 (DFNB12) and GJB2
Two inherited copies of a recessive variant cause this form of hearing loss, and GJB2 changes such as c.35delG and c.-23+1G>A vary in frequency between populations.
DFNB36 Deafness Without Vestibular Involvement
Profound hearing loss occurs without balance problems in DFNB36, a recessive condition where COCH variants and copy-number analysis feature in genetic testing.
Decoding Dejerine-Sottas Neuropathy: Understanding, Diagnosing, and Using Genetic Testing
Peripheral nerve damage from childhood or early adolescence brings weakness, atrophy and sensory loss; PRX, UBE3C and a chromosome 8qter locus are implicated.
Decoding Deuteranomaly: A Comprehensive Guide to Understanding, Diagnosing, and Using Genetic Testing
OPN1MW gene changes alter the M cone photopigment in deuteranomaly, an X-linked recessive trait picked up by Ishihara plates and helped by color-correcting lenses.