Lab News

RFC1 Repeat Expansion Testing for CANVAS Now Available!

A biallelic intronic expansion in the RFC1 gene has recently been identified in the majority of patients with CANVAS (Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome) and in a proportion of late onset ataxia patients. Re-analysis of our negative ataxia cases has demonstr

FMR1 Premutation Repeat Expansion Analysis Added to Two Panels at no additional cost!

We are pleased to announce the addition of FMR1 premutation repeat expansion analysis to our Ataxia Repeat Expansion Panel and our Premature Ovarian Failure Panel, making these tests more comprehensive!

Dyslipidemia and Hypercholesterolemia Panels Now Available!

We are pleased to announce we have added new panels for dyslipidemias and familial hypercholesterolemia to our testing menu! Dyslipidemias are a clinically and genetically heterogenous group of disorders associated with abnormal levels of lipids and lipoproteins, including increased or decreased