We recently described a disorder termed Huntington disease–like 2 (HDL2) that completely
segregates with an unidentified CAG/CTG expansion in a large pedigree (W) 1. We now …

BACKGROUND Epi proColon® is a new blood-based colorectal cancer (CRC) screening
test designed to determine the methylation status of a promoter region of the SEPT9 (septin …

Background Screening improves outcomes related to colorectal cancer (CRC); however,
suboptimal participation for available screening tests limits the full benefits of screening. Non …

One mission of the ACMG Laboratory Quality Assurance (QA) Committee is to develop
standards and guidelines for clinical genetics laboratories, including cytogenetics …

We reported elsewhere that an untranslated CTG expansion causes the dominantly
inherited neurodegenerative disorder spinocerebellar ataxia type 8 (SCA8). SCA8 shows a …

Introduction Colorectal cancer screening programs seek to maintain patient adherence to
repeated tests over the duration of patients' screening eligibility. This study compares uptake …

Dentatorubral and pallidoluysian atrophy (DRPLA) is an autosomal dominant
neurodegenerative disorder associated with the expansion of a CAG repeat at chromosome …

A detailed immunochemical examination of monoclonal and polyclonal antibody responses
to myelin basic protein (MBce: simple-para) and its peptides has revealed the existence of …

Herein we describe the molecular and clinical findings in a North American Caucasian
family with dentatorubral‐pallidoluysian atrophy (DRPLA). These patients all presented with …

Genetic testing for Huntington disease (HD), by direct analysis of the CAG repeat within the
IT-15 gene that encodes the huntingtin protein, has been performed, for clinical purposes …