Pan-Ethnic Carrier Screen

Published on 06/16/14

Traditional carrier screening is based on an individual’s family history and ethnicity. With the increasing ethnic admixture in the general population, however, there is now a need for a more comprehensive carrier screening assay. The Pan-Ethnic Carrier Screen from EGL Genetics meets that need.

Features and Benefits

  • A mutation list curated by ABMG-certified molecular laboratory directors; developed in consultation with the extensive mutation database: EmVClass
  • ACMG- and ACOG-recommended mutations, including those for cystic fibrosis, sickle cell disease, and diseases common in the Ashkenazi Jewish population, are included
  • Mutations found in many metabolic disorders, lysosomal storage disorders, and diseases included on newborn screening panels are also included
  • Reliable next generation sequencing (NGS) analysis of point mutations and larger deletions and duplications
  • Comprehensive testing for family members
  • Prenatal testing available

Testing Options

  • A NGS-based assay for the detection of 694 mutations in 136 genes, including large deletions and duplications*
  • The NGS assay, plus carrier testing for spinal muscular atrophy (SMA) and X-Linked Conditions (With Fragile X Repeat Analysis) - Females Only
  • Carrier testing for Duchenne muscular dystrophy (DMD) coming soon - Females Only

*Mutations are subject to change

Now Available - Pan-Ethnic Carrier Screen

Click on the test code to be taken to each panel's test page for more information.

Full Gene Sequencing

MM470 Pan-Ethnic Carrier Screen: Full Gene Sequencing, Including X-Linked Conditions (With Fragile X Repeat Analysis), and SMA Analysis - Females Only

MM471 Pan-Ethnic Carrier Screen: Full Gene Sequencing, Including X-Linked Conditions (With Fragile X Repeat Analysis) - Females Only

MM472 Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis

MM473 Pan-Ethnic Carrier Screen: Full Gene Sequencing

Mutation Analysis

MM480 Pan-Ethnic Carrier Screen: Mutation Analysis, Including X-Linked Conditions (With Fragile X Repeat Analysis), and SMA Analysis - Females Only

MM481 Pan-Ethnic Carrier Screen: Mutation Analysis, Including X-Linked Conditions (With Fragile X Repeat Analysis) - Females Only

MM482 Pan-Ethnic Carrier Screen: Mutation and SMA Analysis

MM483 Pan-Ethnic Carrier Screen: Mutation Analysis

Now Available - Ashkenazi Jewish Carrier Screen

Click on the test code to be taken to each panel's test page for more information.

Full Gene Sequencing

MM500 Ashkenazi Jewish Carrier Screen: Full Gene Sequencing, Including Fragile X Repeat Analysis, and SMA Analysis - Females Only

MM501 Ashkenazi Jewish Carrier Screen: Full Gene Sequencing, Including Fragile X Repeat Analysis - Females Only

MM502 Ashkenazi Jewish Carrier Screen: Full Gene Sequencing and SMA Analysis

MM503 Ashkenazi Jewish Carrier Screen: Full Gene Sequencing

Mutation Analysis

MM510 Ashkenazi Jewish Carrier Screen: Mutation Analysis, Including Fragile X Repeat Analysis, and SMA Analysis - Females Only

MM511 Ashkenazi Jewish Carrier Screen: Mutation Analysis, Including Fragile X Repeat Analysis - Females Only

MM512 Ashkenazi Jewish Carrier Screen: Mutation and SMA Analysis

MM513 Ashkenazi Jewish Carrier Screen: Mutation Analysis

Now Available - Spinal Muscular Atrophy Carrier Screen

Click on the test code to be taken to the panel's test page for more information.

MM490 Spinal Muscular Atrophy: Carrier Screen

Why so many options?

The Pan-Ethnic Carrier Screen Panels are intended for individuals seeking a comprehensive screen. 

The Ashkenazi Jewish Carrier Screen Panels are intended for those of Ashkenazi Jewish ancestry who are not interested in expanded screening.

The sequencing panel options screen for more mutations and rarer mutations. They are ideal for individuals with family histories of unknown mutations and individuals with partners positive for a genetic disorder. Sequencing technology also allows for a more thorough prenatal diagnosis if the partner is unavailable for testing or negative on a different panel.

Why are X-Linked options for females only?

Consenting for these conditions is different than for traditional autosomal recessive conditions and some physicians may not be comfortable with the different counseling needed. Males should also not be tested, as it would be more of a diagnostic (versus screen) and most males would be clinically diagnosed prior to reproductive years. Lastly, males with mutations would not carry reproductive risks.

New and Updated Gene Panels

Industry-leading number of gene panels

EGL Next Generation Sequencing Panels include comprehensive, evidence-based gene lists, improved turnaround times, and reduced pricing.