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RFC1 Repeat Expansion Testing for CANVAS Now Available!

We are pleased to announce the addition of RFC1 repeat expansion analysis to our Ataxia Repeat Expansion Panel, making this test more comprehensive! ~5% of our previously negative ataxia cases have been diagnosed with RFC1-associated ataxia or CANVAS.

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Discounted test price for patient self-pay!

We are pleased to offer a discounted price for patients who pay for testing out of pocket. Please contact the laboratory for more detailed pricing information. Click the link below for more information about our other billing options.

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NGS Panel testing is now more comprehensive!

All Next Generation Sequencing panels now include both sequencing and deletion/duplication analysis with no increase in cost! Please see our Quick Guide and requisition forms for up to date test information while our website is being updated to reflect this change.

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Comprehensive Neuromuscular Testing

We are pleased to offer a comprehensive and frequently updated Neuromuscular Exome Panel! The significant clinical and genetic heterogeneity seen in neuromuscular disease makes an exome panel a useful approach in the genetic diagnosis of neuromuscular disease.

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Movement Disorders Brain Malformations Endocrinology Epilepsy Exome Hereditary Cancer Neuromuscular Congenital Malformations Neurodevelopmental

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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

RFC1 Repeat Expansion Testing for CANVAS Now Available!

Discounted test price for patient self-pay!

NGS Panel testing is now more comprehensive!

Comprehensive Neuromuscular Testing

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Dyslipidemia Panel

Hypercholesterolemia Panel

Neuromuscular Disorders Exome

Ataxia Repeat Expansion Panel

Lab News

RFC1 Repeat Expansion Testing for CANVAS Now Available!

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

Dyslipidemia and Hypercholesterolemia Panels Now Available!

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