Guy's & St Thomas' NHS Foundation Trust

2 ARTICLES PUBLISHED IN JoVE

Medicine

FISH for Pre-implantation Genetic Diagnosis

Paul N. Scriven¹, Toby L. Kirby¹, Caroline Mackie Ogilvie¹

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 Ahn¹, Michael Coldwell², Susan Bint², Caroline Mackie Ogilvie¹

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.