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Preimplantation genetic diagnosis and screening
Clinical Genetic Test
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offered by
PGD Laboratory
View lab's test page
LinkOut
GTR Test Accession: Help GTR000500028.5
Last updated in GTR: 2021-03-31
View version history
Last annual review date for the lab: 2021-03-23 Past due LinkOut
At a Glance
Test purpose: Help
Pre-implantation genetic diagnosis; Screening
Conditions (1): Help
Congenital chromosomal disease
Chromosomal regions/ Mitochondria (1): Help
Human genome
Methods (1): Help
Molecular Genetics - Targeted variant analysis: Other
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
PGD Laboratory
View lab's website
View lab's test page
Test short name: Help
PGD/PGS
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • In-State Patients
  • Out-of-State Patients
  • Public Health Mandate
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
The first contact will be done by e-mail to pgd@sistemasgenomicos.com. In this e-mail it is recommended to expose the genetic condition and family history in order to valuate the application of PGD.
Order URL
Test service: Help
Preimplantation Genetic Screening
Preimplantation Genetic Diagnosis (PGD)
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, Lab contact for this test, Test strategy
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Targeted variant analysis
Other
* Instrument: Not provided
Clinical Information
Test purpose: Help
Pre-implantation genetic diagnosis; Screening
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
98% or greater
View citations (8)
  • Harton GL, Magli MC, Lundin K, Montag M, Lemmen J, Harper JC, . ESHRE PGD Consortium/Embryology Special Interest Group--best practice guidelines for polar body and embryo biopsy for preimplantation genetic diagnosis/screening (PGD/PGS). Hum Reprod. 2011;26(1):41-6. doi:10.1093/humrep/deq265. Epub 2010 Oct 21. PMID: 20966459.
  • Harton G, Braude P, Lashwood A, Schmutzler A, Traeger-Synodinos J, Wilton L, Harper JC, . ESHRE PGD consortium best practice guidelines for organization of a PGD centre for PGD/preimplantation genetic screening. Hum Reprod. 2011;26(1):14-24. doi:10.1093/humrep/deq229. Epub 2010 Oct 21. PMID: 20966460.
  • Harton GL, Harper JC, Coonen E, Pehlivan T, Vesela K, Wilton L, . ESHRE PGD consortium best practice guidelines for fluorescence in situ hybridization-based PGD. Hum Reprod. 2011;26(1):25-32. doi:10.1093/humrep/deq230. Epub 2010 Oct 21. PMID: 20966461.
  • Harton GL, De Rycke M, Fiorentino F, Moutou C, SenGupta S, Traeger-Synodinos J, Harper JC, . ESHRE PGD consortium best practice guidelines for amplification-based PGD. Hum Reprod. 2011;26(1):33-40. doi:10.1093/humrep/deq231. Epub 2010 Oct 21. PMID: 20966462.
  • Hum Reprod. 2011 Jan;26(1):14-24. Epub 2010 Oct 21.
  • Hum Reprod. 2011 Jan;26(1):25-32. Epub 2010 Oct 21.
  • Hum Reprod. 2011 Jan;26(1):33-40. Epub 2010 Oct 21.
  • Hum Reprod. 2012 Aug;27(8):2569. Epub 2012 Jun 3. No abstract available.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No

Method used for proficiency testing: Help
Inter-Laboratory

PT Provider: Help
UK-NEQAS and CEQA
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
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.