Hereditary Spastic Paraplegia 64: Testing and Its Limits
Confirming a homozygous COQ7 variant supports a diagnosis of HSP64, though results need expert interpretation and raise questions about privacy and access to counseling.
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
Hopeful Horizons: Genetic Testing for Hereditary Spastic Paraplegia 72
Muscle stiffness and weakness from corticospinal tract damage can differ between relatives with HSP72, and slow progression makes it easy to miss early on.
Hyperammonemic Encephalopathy Due to Carbonic Anhydrase VA Deficiency: Unlocking Genetic Testing's Potential
Metabolic acidosis, respiratory alkalosis, hypoglycemia and raised lactate in early life can signal this disorder; CA5A testing confirms it and guides dietary care.
HID4: Alkaline Phosphatase, Delay and Gene Tests
Bone metabolism and cognition are both affected in HID4, where alkaline phosphatase runs high. DNA analysis supports diagnosis, treatment and counseling.
Hypopigmentation-Punctate Palmoplantar Keratoderma Syndrome: Unraveling the Genetic Mysteries
Punctate keratoderma on palms and soles appears with hypopigmented macules and, in some people, ectopic calcification and pachyonychia affecting the nails.
Hypotrichosis 12: Recessive Inheritance and Carrier Testing
Two copies of the mutated gene, one inherited from each parent, cause the sparse hair growth of Hypotrichosis 12, and carrier testing informs reproductive choices.
Illuminating Idiopathic CD4 Lymphocytopenia: The Role of Genetic Testing
Persistently low CD4+ T cells with no HIV infection or other known cause define ICL, a rare condition diagnosed by exclusion and managed without a set protocol.
Illuminating Immunodeficiency 14: The Role of Genetic Testing in Diagnosis and Treatment
Recurrent respiratory infections, gut problems and chronic inflammation mark this primary immunodeficiency; whole-exome sequencing identified STAT1 and IFIH1 variants.