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Preimplantation genetic screening by microarray
Clinical Genetic Test
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offered by
Pittsburgh Cytogenetics Laboratory
View lab's test page
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GTR Test Accession: Help GTR000528065.2
INHERITED DISEASEDYSMORPHOLOGYSYNDROMIC DISEASE ... View more
Last updated in GTR: 2015-10-01
View version history
Last annual review date for the lab: 2023-05-22 LinkOut
At a Glance
Test purpose: Help
Pre-implantation genetic diagnosis; Screening
Conditions (62): Help
Autosomal chromosomal disorder; 22q partial monosomy; 3p- syndrome; ...
Analytes (1): Help
24 chromosomes aneuploidy
Chromosomal regions/ Mitochondria (24): Help
Chromosome 1; Chromosome 10; Chromosome 11; Chromosome 12; Chromosome 13; ...
Methods (1): Help
Molecular Genetics - Deletion/duplication analysis: Microarray
Target population: Help
infertility, structural chromosomal abnormalities, X-linked disorders, inherited chromosomal syndromes, advanced …
Clinical validity: Help
Not provided
Clinical utility: Help
Reproductive decision-making
Ordering Information
Offered by: Help
Pittsburgh Cytogenetics Laboratory
View lab's website
View lab's test page
Test short name: Help
PGS microarray
Who can order: Help
  • Licensed Physician
  • Out-of-State Patients
  • In-State Patients
How to Order: Help
For more information, please contact the laboratory directly.
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Yes
Test strategy: Help
Standard In vitro fertilization and embryo transfer (IVF-ET) involves controlled ovarian hyperstimulation to obtain multiple (6-12) mature oocytes, in vitro fertilization, and culturing to the blastocyst stage (70-120 cells) by day 5 after fertilization. These procedures can be performed at the Center for Fertility and Reproductive Endocrinology at Magee-Womens Hospital​. … View more
View citations (3)
  • Franasiak JM, Forman EJ, Hong KH, Werner MD, Upham KM, Treff NR, Scott RT. The nature of aneuploidy with increasing age of the female partner: a review of 15,169 consecutive trophectoderm biopsies evaluated with comprehensive chromosomal screening. Fertil Steril. 2014;101(3):656-663.e1. doi:10.1016/j.fertnstert.2013.11.004. Epub 2013 Dec 17. PMID: 24355045.
  • Idowu D, Merrion K, Wemmer N, Mash JG, Pettersen B, Kijacic D, Lathi RB. Pregnancy outcomes following 24-chromosome preimplantation genetic diagnosis in couples with balanced reciprocal or Robertsonian translocations. Fertil Steril. 2015;103(4):1037-42. doi:10.1016/j.fertnstert.2014.12.118. Epub 2015 Feb 21. PMID: 25712573.
  • RETIRED: Technical Update: Preimplantation Genetic Diagnosis and Screening. Dahdouh EM, et al. J Obstet Gynaecol Can. 2015;37(5):451-63. doi:10.1016/s1701-2163(15)30261-9. PMID: 26168107.
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, Specimen source, Lab contact for this test, Contact policy
Conditions Help
Total conditions: 62
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 1
Analyte Associated Condition
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 24
Chromosomal region/Mitochondrion Associated condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Deletion/duplication analysis
Microarray
Agilent SureSelect
Clinical Information
Test purpose: Help
Pre-implantation genetic diagnosis; Screening
Clinical utility: Help
Reproductive decision-making
View citations (1)
  • Tobler KJ, Brezina PR, Benner AT, Du L, Xu X, Kearns WG. Two different microarray technologies for preimplantation genetic diagnosis and screening, due to reciprocal translocation imbalances, demonstrate equivalent euploidy and clinical pregnancy rates. J Assist Reprod Genet. 2014;31(7):843-50. doi:10.1007/s10815-014-0230-3. Epub 2014 Apr 26. PMID: 24771116.

Target population: Help
infertility, structural chromosomal abnormalities, X-linked disorders, inherited chromosomal syndromes, advanced maternal age, repeated spontaneous abortions
View citations (2)
  • Changing indications for preimplantation genetic diagnosis (PGD). Simpson JL, et al. Mol Cell Endocrinol. 2001;183 Suppl 1:S69-75. doi:10.1016/s0303-7207(01)00573-1. PMID: 11576737.
  • Basille C, Frydman R, El Aly A, Hesters L, Fanchin R, Tachdjian G, Steffann J, LeLorc'h M, Achour-Frydman N. Preimplantation genetic diagnosis: state of the art. Eur J Obstet Gynecol Reprod Biol. 2009;145(1):9-13. doi:10.1016/j.ejogrb.2009.04.004. Epub 2009 May 02. PMID: 19411132.
Research:
Is research allowed on the sample after clinical testing is complete? Help
No
Recommended fields not provided:
Clinical validity, 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?, Sample negative report, Sample positive report
Technical Information
Test Platform:
Agilent SurePrint G3 Human CGH Microarray Kit, 2x400K
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
This test is evaluated for analytical validity using an established validation process utilizing abnormal and normal specimens as per CAP, ACMG, and CLIA guidelines. This microarray will screen for whole chromosome aneuploidy (trisomy and monosomy), segmental aneuplody involving chromosomal regions greater than 10 Mb in size. If more information is … View more
Assay limitations: Help
The PGS microarray analysis was developed for the sole purpose of screening for numerical chromosomal abnormalities (whole chromosome aneuploidy) with 95-98% accuracy. Microarray will not detect copy number alterations below 10 Mb in size, balanced chromosome rearrangements, such as balanced translocations or inversions, uniparental disomy or imprinting disorders, microdeletions/microduplication syndromes, … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No

Method used for proficiency testing: Help
Intra-Laboratory
Recommended fields not provided:
Test Confirmation, Citations to support assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information
Consumer resources:

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.