Guy’s & St Thomas’ Centre for Preimplantation Genetic Diagnosis
2 ARTICLES PUBLISHED IN JoVE
Medicine
FISH for Pre-implantation Genetic Diagnosis
Paul N. Scriven 1, Toby L. Kirby 1, Caroline Mackie Ogilvie 1
1Department of Cytogenetics, GSTS-Pathology, Guy’s & St Thomas’ NHS Foundation Trust, Guy’s & St Thomas’ Centre for Preimplantation Genetic Diagnosis
This article describes the selection of suitable probes for single-cell FISH, spreading techniques for blastomere nuclei, and in situ hybridization and signal scoring, applied to pre-implantation genetic diagnosis (PGD) in a clinical setting.
Biology
Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Joo Wook Ahn 1, Michael Coldwell 2, Susan Bint 2, Caroline Mackie Ogilvie 1
1Cytogenetics Department, Guy's & St Thomas' NHS Foundation Trust, 2Cytogenetics Department, Viapath Analytics
Array CGH for the detection of genomic copy number variants has replaced G-banded karyotype analysis. This paper describes the technology and its application in a diagnostic service laboratory.
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