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UNITY Carrier Screen
Clinical Genetic Test
Help
offered by
BillionToOne
View lab's test page
LinkOut
GTR Test Accession: Help GTR000570317.2
CAP
INHERITED DISEASEHEMATOLOGYNERVOUS SYSTEM ... View more
Last updated in GTR: 2021-07-21
View version history
Last annual review date for the lab: 2021-07-21 Past due LinkOut
At a Glance
Test purpose: Help
Screening
Conditions (16): Help
Cystic fibrosis; Beta-thalassemia major; Hb SS disease more...
Genes (5): Help
CFTR (7q31.2); HBA1 (16p13.3); HBA2 (16p13.3); HBB (11p15.4); SMN1 (5q13.2)
Methods (3): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Target population: Help
Pregnant women
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
BillionToOne
View lab's website
View lab's test page
Test short name: Help
UNITY screen
Specimen Source: Help
  • Peripheral (whole) blood
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Registered Nurse
Test Order Code: Help
Unity Carrier Screen
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
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
Test service: Help
Genetic counseling
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required: Help
Based on applicable state law
Test 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 … View more
View citations (1)
  • Tsao DS, Silas S, Landry BP, Itzep NP, Nguyen AB, Greenberg S, Kanne CK, Sheehan VA, Sharma R, Shukla R, Arora PN, Atay O. A novel high-throughput molecular counting method with single base-pair resolution enables accurate single-gene NIPT. Sci Rep. 2019;9(1):14382. doi:10.1038/s41598-019-50378-8. Epub 2019 Oct 07. PMID: 31591409.
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Lab contact for this test
Conditions Help
Total conditions: 16
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 5
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 3
Method Category Help
Test method Help
Instrument
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Illumina MiSeq
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina MiSeq
Targeted variant analysis
PCR
Other
Clinical Information
Test purpose: Help
Screening
Target population: Help
Pregnant women
View citations (1)
  • Tsao DS, Silas S, Landry BP, Itzep NP, Nguyen AB, Greenberg S, Kanne CK, Sheehan VA, Sharma R, Shukla R, Arora PN, Atay O. A novel high-throughput molecular counting method with single base-pair resolution enables accurate single-gene NIPT. Sci Rep. 2019;9(1):14382. doi:10.1038/s41598-019-50378-8. Epub 2019 Oct 07. PMID: 31591409.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Unity does not report Variants of Uncertain Significance.

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
No.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. BillionToOne reports only pathogenic and likely pathogenic variants. If the status of one of these changes by expert panel review in ClinVar, BillionToOne will recontact. If a generally accepted Variant of Uncertain Significance in ClinVar is reclassified into the "Likely Pathogenic" category, BillionToOne will recontact.
Research:
Is research allowed on the sample after clinical testing is complete? Help
BillionToOne does not perform research after testing clinical samples. It may use de-identified remainder samples for Quality Assurance purposes only.
Recommended fields not provided:
Clinical validity, Clinical utility, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
UNITY Five Gene Carrier Screen DNA is extracted and purified from leukocyte enriched peripheral blood. The resulting DNA is subjected to two separate Laboratory Developed Procedures, digitalMLPA and a Custom Amplicon Panel PCR, that is sequenced by synthesis on an Illumina MiSeq. Results are aligned and examined on a custom … View more
View citations (1)
  • Tsao DS, Silas S, Landry BP, Itzep NP, Nguyen AB, Greenberg S, Kanne CK, Sheehan VA, Sharma R, Shukla R, Arora PN, Atay O. A novel high-throughput molecular counting method with single base-pair resolution enables accurate single-gene NIPT. Sci Rep. 2019;9(1):14382. doi:10.1038/s41598-019-50378-8. Epub 2019 Oct 07. PMID: 31591409.
Test Confirmation: Help
Small nucleotide variants are confirmed using Sanger sequencing.
Availability: Help
Tests performed
Entire test performed in-house

Test performance comments
The UNITY Carrier Screen was developed and its performance characteristics determined by the BillionToOne laboratory. It has not been cleared or approved by the U.S. Food and Drug Administration. The BillionToOne laboratory is regulated under CLIA (CLIA ID: 05D2167800) . This test is used for clinical purposes. It should not … View more
Analytical Validity: Help
UNITY Five Gene Carrier Screen The carrier screen panel is designed to detect the majority of pathogenic alleles for cystic fibrosis, sickle cell disease, alpha-thalassemia, beta-thalassemia, and spinal muscular atrophy. The test has sensitivity of >99% for cystic fibrosis, >99% for sickle cell disease and beta-thalassemia, >95% for alpha-thalassemia and … View more
Assay limitations: Help
UNITY offers non-invasive prenatal testing (NIPT) of five 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. NIPT is only performed on singleton pregnancies of at least 10 weeks gestation (excluding pregnancies achieved … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Alternative Assessment

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
VUS:
Software used to interpret novel variations Help
BillionToOne makes extensive use of ClinVar and other publicly available tools.

Laboratory's policy on reporting novel variations Help
Unity does not report novel variants classified by the Laboratory Director as Variants of Uncertain Significance, Likely Benign or Benign. Only Likely Pathogenic and Pathogenic variants are reported.
Recommended fields not provided:
Citations to support assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in 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.