U.S. flag

An official website of the United States government

GTR Home > Tests > UNITY Carrier Screen

Overview

Test order codeHelp: Unity Carrier Screen

Test name

Help

UNITY Carrier Screen (UNITY screen)

Purpose of the test

Help

This is a clinical test intended for Help: Screening

Condition

Help

Loading data ......

Click Indication tab for more information.

How to order

Help

Peripheral blood collected in streck top tubes. BTO will be provide test kits that will include tubes and packing/shipping materials.
Order URL Help: https://unityscreen.com/order/

Specimen source

Peripheral (whole) blood

Methodology

Help
Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
  • Illumina MiSeq
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina MiSeq
TTargeted variant analysis
PCR
  • Other

Summary of what is tested

Loading data ......

Click Methodology tab for more information.

Clinical utility

Help

Not provided

Clinical validity

Help

Not provided

Testing strategy

Help

UNITY uses next-generation DNA sequencing and deletion analysis of HBA1, HBA2, HBB, CFTR, and SMN1 to diagnose carrier status for cystic fibrosis, spinal muscular atrophy, and hemoglobinopathies (alpha-thalassemia, beta-thalassemia, and sickle cell disease). Single nucleotide variants in the gene panel are identified by next-generation sequencing (NGS) of exons. Deletion analysis is performed by digital multiplex ligation-dependent probe amplification (MLPA). UNITY offers fetal risk assessment non-invasive prenatal testing (NIPT) of these single-gene disorders when a carrier is identified from pregnant, maternal blood. NIPT is offered as a reflex test that analyzes cell-free DNA (cfDNA) in blood plasma. 000 Peripheral blood collected in streck top tubes. BTO will be provide test kits that will include tubes and packing/shipping materials.

Test services

Help
  • Genetic counseling

Suggested reading

Practice guidelines

  • DailyMed Drug Label, 2022
    DailyMed Drug Label, KALYDECO- ivacaftor tablet, 2022
  • ACMG ACT, 2012
    American College of Medical Genetics and Genomics Carrier Screening ACT Sheet, No Mutations Detected by Carrier Screening, Cystic Fibrosis (CF), 2012
  • ACMG ACT, 2012
    American College of Medical Genetics and Genomics Carrier Screening ACT Sheet, CFTR Mutations except R117H, Cystic Fibrosis (CF), 2012
  • ACMG ACT, 2012
    American College of Medical Genetics and Genomics Carrier Screening ACT Sheet, Cystic Fibrosis R117H, 2012
  • ACMG ACT, 2012
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated IRT +/- DNA, Cystic Fibrosis, 2012
  • ACMG ACT, 2011
    American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders
  • ACMG Algorithm, 2006
    American College of Medical Genetics and Genomics, Algorithm, Immunoreactive Trypsinogen (IRT Elevated), 2006

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.