Preimplantation Genetic Test
Clinical Genetic Test
offered by
GTR Test Accession: Help GTR000597619.3
Last updated in GTR: 2023-07-28
Last annual review date for the lab: 2023-07-28 LinkOut
At a Glance
Pre-implantation genetic diagnosis; Screening
Down syndrome (Trisomy 21) Patau syndrome (Trisomy 13) Edwards syndrome (Trisomy 18) Klinefelter syndrome (47,XXY) Turner syndrome (45, XO), and aneuploidies corresponding to the 46 chromosome screening
Complete chromosomes (Whole Genome Amplification and Sreening)
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Health care professionals who perform in vitro fertilization and require …
Not provided
Reproductive decision-making
Ordering Information
Offered by: Help
Test short name: Help
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
Lab contact: Help
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Health care professionals contact SG to get the Purchase Order, the Sample Requirements Datasheet and the Quality Policy (by email). Afterwards, SG get in touch with the client to solve doubts, to agree the samples collection date or shipping (depending the area) to its core facility.
Order URL
Test service: Help
preimplantation genetic screening
    Comment: The code is under review
    OrderCode: 88299
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Test strategy: Help
The client gets in touch with SG (email or phone), requests test documentation and agrees sample collection or shipping (depending on the area). Once SG has the samples, they are completly processed and sequenced in house and the results are sent by email to the client. Meanwhile the payment must … View more
Pre-test genetic counseling required: Help
Post-test genetic counseling required: Help
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Total methods: 1
Method Category Help
Test method Help
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina MiSeq
Clinical Information
Test purpose: Help
Pre-implantation genetic diagnosis; Screening
Clinical utility: Help
Target population: Help
Health care professionals who perform in vitro fertilization and require to screen the embryos karyotype ploidy before implantation. 23 pair chromosome screening to discard some syndromes and abnormal ploidy. For Assisted Reproductive Clinics and services.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided. The results are delivered to the e-mail address registered in the documents sent in the beginning of the process.
Is research allowed on the sample after clinical testing is complete? Help
Sample reports:
Sample Positive Report Help
Sample Positive Report
Recommended fields not provided:
Technical Information
Test Procedure: Help
SurePlex for Whole Genome Amplification, VeriSeq for Sample Preparation and MiSeq cartridges for sequencing. BlueFuse Multi data analysis.
Test Confirmation: Help
SG reports the 23 Chromosomes ploidy or copy number including the sexual chromosome status (embryo sex). A negative result is reported as SAMPLE NOT AMPLIFIED.
Test Comments: Help
The results are reported either written or graphical for each sample. SG does not interpret or sugest the results (just describes). The criteria whether to implant or not the embryos are health care professional`s responsability.
Availability: Help
Tests performed
Entire test performed in-house

Test performance comments
Once SG has the biopsies samples, all the processing (WGA, sample prep, library generation and sequencing) is performed at SG core falicility. Data analysis and reporting are also generated at SG lab, finally SG send the results (reports) to the client.
Analytical Validity: Help
NGS specificity for aneuploidy call (consistency of chro- mosome copy number assignment) was 99.98% (95% CI 99.88%–100%) with a sensitivity of 100% (95% CI 99.08%– 100%). NGS specificity for aneuploid embryo call (24- chromosome diagnosis consistency) was 100% (95% CI 94.59%–100%) with a sensitivity of 100% (95% CI 97.39%– 100%). … View more
View citations (1)
Assay limitations: Help
Balanced translocations (bigger than 14 Mb in size) with known translocation break-points are required to assess accuracy and resolution limits for this approach.
View citations (1)
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP

Description of PT method: Help
Proficiency Tests Annual Program for Next generation sequencing proccess and variants reporting: NGS-Germline

CAP Testing Information (legacy) Help
Molecular Genetics Sequencing; DNA sequencing; SEC1
Software used to interpret novel variations Help

Laboratory's policy on reporting novel variations Help
Recommended fields not provided:
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.