GUIDELINE-DRIVEN REFLEX TESTING PROVIDES THE HIGHEST DIAGNOSTIC POTENTIAL FOR YOUR PATIENTS

Reflex testing is a stepwise, genome-wide assessment providing the highest diagnostic potential for your patients with neurodevelopmental disorders. Testing begins with FirstStepDx PLUS, with or without Fragile X syndrome testing, and NextStepDx PLUS is automatically initiated if the first-tier testing is non-diagnostic.

FirstStepDX Plus

Chromosomal microarray can detect deletions and duplications (copy number variants) across the genome, which are common causes of autism spectrum disorder and developmental delay.

Fragile X Syndrome Testing

This testing is designed to quantify the CGG trinucleotide repeat in the FMR1 gene. When expanded, this repeat causes >99% of cases of fragile X syndrome.

NextStepDX PLUS

Whole exome sequencing analyzes all protein-coding regions of over 20,000 genes (exome) utilizing next-generation sequencing technologies. While the exome constitutes only 1-2% of the genome, 85% of all disease causing mutations are located there.

GUIDELINE-DRIVEN TESTING

The American Academy of Pediatrics, the American Academy of Neurology, and the American College of Medical Genetics & Genomics all recommend chromosome microarray as a first-tier test and whole exome sequencing as a first- or second-tier test for individuals with a neurodevelopmental disorder.

Benefits Of Reflex Testing

  • Saves patients money on unnecessary follow-up and other diagnostic tests
  • Saves clinicians and families time by initiating second-tier testing faster

Selecting Your Tests

When you select FirstStepDx, Fragile X, and NextStepDx on on our 1-page test requisition form, our team will always perform FirstStepDx and Fragile X Syndrome Testing first, and only perform NextStepDx if the first-tier testing is non-diagnostic.

Making It Easy

We handle the benefits investigations and prior authorizations, which means no surprise bills for families and no insurance headaches for healthcare providers. We will not proceed with testing until the family has agreed to any out-of-pocket costs greater than $100.

CLINICAL QUESTIONS?

Call our genetic counseling team at:

801.931.6191