|
Project
Title |
LabID |
Completed |
|
Screening of
Microdeletion Negative DiGeorge
Syndrome Referrals for a 22q11.2 Microduplication
by Interphase Fluorescence In Situ Hybridisation
(FISH) |
ST GEORGES
HOSPITAL |
01/05/2005 |
|
small
amendments req. |
KENNEDY-GALTON
CENTRE |
14/04/2005 |
|
The
introduction of DNA FISH probes RP11-80B16, RP11-40H10, RP11-10E18, RP11-14B13,
RP11-318G11, RP11-151A6 and RP11-25E13, in the Cardiff Cytogenetics
Laboratory, University Hospital of Wales.
The confirmation and characterisation of a duplication of chromosome
13, q32.1 to q32.3, found in a proband and his
mother, with FISH studies using the probes, RP11-80B16, RP11-40H10,
RP11-10E18, RP11-14B13, RP11-318G11 and RP11-25E13. |
|
28/01/2008 |
|
Characterisation
of a de novo rearr. Involving chr.
2 and 5 in a patient with psychological and behavioural problems using BAC clones
as FISH probes. |
KENNEDY-GALTON
CENTRE |
01/07/2005 |
|
Mapping the
breakpoints of an apparently balanced chromosome 10 inversion with an
abnormal phenotype using Fluorescent in situ hybridisation |
|
02/11/2005 |
|
An investigation
of maternal cell contamination in placental membranes |
|
|
|
A
Prospective Study into the Use of Multiplex Ligation-Dependent
Probe Amplification for the Detection of DiGeorge /
Velocardiofacial Syndrome |
|
22/07/2005 |
|
Breakpoint mapping
of two apparently recurrent inversions of chromosome 13 using fluorescence in
situ hybridisation |
|
05/02/2007 |
|
An
investigation into the introduction of an interphase
fluorescence in situ hybridisation probe panel to detect chromosomal abnormalities
in chronic lymphocytic leukaemia |
|
05/02/2007 |
|
Characterisation
of breakpoints in the proximal long arm of chromosome 14 using FISH with
locus-specific Bacterial Artificial Chromosome clones |
GUY’S
HOSPITAL |
25/07/2006 |
|
Introduction
of the Affymetrix 10K SNP oligonucleotide
array into the West Midlands Regional Genetics Laboratory - A pilot study |
|
30/11/2005 |
|
The use of
FISH to validate duplications identified by microarray |
GREAT |
01/10/2005 |
|
Combined Immunohistochemistry and Spectral Imaging for the
identification of Cytogenetic abnormalities in Lymphoma. |
|
20/01/2006 |
|
The
introduction of automated metaphase finding and on-screen Karyotyping
to improve efficiency |
GUY’S
HOSPITAL |
25/07/2006 |
|
Investigations
into Fluorescence In Situ Hybridisation (FISH) analysis of multiple myeloma, including the development of concurrent plasma
cell FISH and immuno-fluorescent staining. |
|
05/02/2007 |
|
Analysis of
Multiple Myeloma Referrals: Simultaneous
Examination of Immunofluorescence and FISH signals |
|
20/03/2008 |
|
Evaluation
of MLPA as a screening tool for sub-telomeric
imbalance |
|
20/03/2008 |
|
THE
DEVELOPMENT OF CIG-FISH FOR THE DETECTION OF PLASMA CELLS IN MULTIPLE MYELOMA
REFERRALS |
BR |
27/02/2006 |
|
Characterisation
of Rearrangements Involving 2q37 Using Novel FISH Probes |
GUY’S
HOSPITAL |
19/10/2006 |
|
Evaluation
of the CytoChipTM microarrays and BlueFuse for Microarrays analysis software. |
ED |
11/09/2006 |
|
An unbalanced
karyotype in a patient with abnormal phenotype characterised by microarray comparative genome hybridisation (Array CGH) |
KENNEDY-GALTON
CENTRE |
22/09/2006 |
|
Comparison
of different array Comparative Genomic Hybridisation (array CGH) Platforms:
Investigation of a patient with a clinical presentation suggestive of a
chromosomal imbalance and an apparently normal karyotype |
KENNEDY-GALTON
CENTRE |
29/10/2006 |
|
Haemopoietic growth factors improve the mitotic index and chromosome quality
in myeloid cell cultures. |
|
05/02/2007 |
|
Haplotype analysis and breakpoint mapping of the common variant inversion
of chromosome 2 |
|
12/07/2006 |
|
Development
of Comparative Genomic Hybridisation (CGH) for the Detection of Genomic
Aberrations in Lymph Node Samples, Referred for Possible Lymphomas. |
|
13/09/2006 |
|
To Propose a
Reliable means of Identifying Plasma Cells (PCs) from Haematological Bone
Marrow Smears (BMSs), prior to fluorescent in situ
hybridisation (FISH) studies, for patients referred for Multiple Myeloma (MM). LSI 13 (13q14.3) (Locus Specific Indicator)
and IgH (Immunoglobulin heavy chain) Break Apart
Translocation Probes were then used to Analyse these PCs for Chromosome
Abnormalities associated with MM. |
|
14/02/2008 |
|
Prenatal
Diagnosis using Array-CGH in the Clinical Cytogenetics Laboratory |
|
31/10/2006 |
|
MLPA
(Multiple Ligation-Dependant Probe Amplification)
Screening for the Detection of 22q11 Deletions and Duplications- Implementing
and Validating the Technology within a Cytogenetic Laboratory |
|
29/09/2008 |
|
“Optimisation
and evaluation of multiplex ligation-dependent
probe amplification (MLPA) for DiGeorge
syndrome/VCFS screening”. |
|
12/12/2006 |
|
Investigations
to determine factors which affect the quality of the Agilent 44k oligo-array |
|
28/03/2007 |
|
Introduction
of Bleomycin as an alternative to irradiation for
investigation of patients with Ataxia Telangiectasia |
|
25/09/2007 |
|
Express FISH:
Reducing the time taken to report preliminary results report preliminary
results. |
|
16/10/2007 |
|
HER2, p53
and chromosome 17 aneusomy in breast cancer. |
|
29/07/2007 |
|
A comparison
of conventional microscopic karyotype analysis with automated metaphase
finding and on-screen karyotyping |
KENNEDY-GALTON
CENTRE |
29/01/2007 |
|
A comparison
between the Thermotron Cytogenetic Drying Chamber
CDS-5 and the Hanabi Metaphase Spreader in a
cytogenetic laboratory |
|
11/01/2008 |
|
Characterising
chromosome 4q abnormalities using array CGH |
|
14/08/2007 |
|
Multiplex Ligation-Dependent Probe Amplification (MLPA):
Investigating its use in gaining a result from non-viable fetal
tissue, compared with Comparative Genomic Hybridisation (CGH) |
|
30/03/2007 |
|
X/Y
chromosome tiling-path a CGH to assess XLMR and X chromosome abnormality
individuals at the West Midlands Regional Genetics Laboratory (WMRGL). |
|
04/09/2007 |
|
Evaluation of
a multiplex reverse-transcription polymerase chain reaction (RT-PCR) in the
clinical screening of acute leukaemia and chronic myeloid leukaemia (CML). |
|
19/03/2007 |
|
GENETIC
HETEROGENEITY AND ADAPTATION IN ESFT CELL LINES |
|
05/02/2007 |
|
To evaluate
the BlueGnome CytoChipTM
(1Mb BAC-based array for comparative genomic hybridisation (CGH)) for use in
a clinical diagnostic setting. |
GREAT |
15/08/2007 |
|
XLMR
patients screened using a high resolution chromosome X exon-specific
oligonucleotide microarray |
|
25/02/2009 |
|
Development
and validation of non-commercially available fluorescent in-situ
hybridisation (FISH) probes and their use in the characterisation of
chromosome rearrangements at Bristol Genetics Laboratory. |
|
02/05/2007 |
|
Investigation
of Patients with Apparently Balanced Chromosome Rearrangements and an
Abnormal Phenotype using Array CGH Technology |
|
11/07/2007 |
|
Detection of
human telomerase gene (TERC) amplification in cervical cancer: A
retrospective study of 50 patients with normal or CIN1/CIN2 Pap smears |
|
26/07/2007 |
|
The
development and implementation of BAC FISH probes for Array CGH confirmatory
studies and rare syndrome testing. |
|
22/08/2007 |
|
A comparison
of two microarray analysis programs for use with aCGH microarrays |
GREAT |
05/02/2007 |
|
The Use of
Multiple Ligation-Dependent Probe Amplification to
Detect Duplications of MECP2 in Males with Mental Retardation and Suspected Rett Syndrome |
|
21/12/2007 |
|
Using FISH Clones
and Microsatellite Markers to Define the Common
Deleted Region in Four Patients with 22q Deletions and the Phenotypic Feature
of Lymphoedema |
ST GEORGES
HOSPITAL |
08/01/2008 |
|
THE
DEVELOPMENT AND IMPLEMENTATION OF A RAPID ANEUPLOIDY DIAGNOSTIC SERVICE (QF-PCR)
FOR URGENT BLOOD SAMPLES WITHIN THE CARDIFF CYTOGENETICS LABORATORY |
|
28/07/2008 |
|
Detection of
copy number change and loss of heterozygosity in
chronic lymphocytic leukaemia patients using Affymetrix® 500K single nucleotide polymorphism arrays |
|
05/02/2007 |
|
Validation
of BlueGnome’s Constitutional Focus CytoChip for application to Prenatal Diagnosis |
|
28/07/2009 |
|
Optimisation
of DNA extraction from solid tissue samples for the implementation of a new
QF-PCR and MLPA service |
|
01/07/2009 |
|
Establishing
a Protocol for DNA Extraction and QF-PCR on Solid Tissue Samples |
|
13/07/2007 |
|
Exploration
of HER-2 gene status by MLPA in patients with HER-2 aberrant FISH patterns. |
|
06/08/2007 |
|
Improved detection
of chromosomal abnormalities in CLL by G-band analysis |
|
10/09/2008 |
|
Extending
FISH Analysis of Paediatric Tumours |
|
21/07/2008 |
|
Evaluation
and Implementation of Machine-assisted Slide Processing |
|
14/10/2008 |
|
Investigating
the use of the Microdeletion Syndromes MLPA Kit
(SALSA P245) in the Diagnosis of Genetic Abnormalities in cases of
Unexplained Mental Retardation |
|
14/07/2008 |
|
Optimisation
and investigation of a robust array CGH protocol for use diagnostically in the
West of Scotland |
|
27/03/2008 |
|
An
investigation into maternal cell contamination in tissues cultured from the
placenta. |
|
30/07/2008 |
|
Optimising
Capture of Bone Marrow Metaphase Images. |
|
06/05/2009 |
|
Investigation
of Analysis Strategies for the Detection of Mosaicism Using Oligonucleotide Array CGH and a Pilot Investigation of a
Chemical-based DNA Labelling Kit |
GUY’S
HOSPITAL |
14/01/2010 |
|
Optimisation
of DNA Extraction and MLPA for the detection of aneuploidy and telomeric DNA copy number changes in tissue samples from
pregnancy loss |
GREAT |
20/01/2009 |
|
The use of
Array-CGH as a genome wide screening tool for patients with congenital heart
defects, learning difficulties and/or dysmorphic
features |
|
27/01/2009 |
|
Array CGH
Investigation of Four Cases with Previously Identified X-Chromosome
Abnormalities |
|
06/01/2009 |
|
Validation
of subtelomeric and microdeletion
MLPA for use in a cytogenetic laboratory |
KENNEDY-GALTON
CENTRE |
16/01/2009 |
|
A New ‘One Tube’
QFPCR Multiplex Assay for Rapid Prenatal Aneuploidy Screening |
|
15/05/2009 |
|
Optimisation
of MLPA for Neuroblastoma patients using the MRC
Holland Kit” |
|
24/08/2009 |
|
High resolution
array analysis: diagnosing pregnancies with abnormal ultrasound findings |
|
05/06/2009 |
|
Evaluation
of the use of MLPA (Multiplex Ligation-dependent
Probe Amplification) as a means of detecting microscopic and sub-microscopic
copy number change in prenatal diagnostic samples using a novel probe-mix combination. |
GREAT |
25/02/2009 |
|
Optimisation
of the MetaCyteTM Scanner for use with the Kreatech P53/ATM Probe in CLL |
|
18/09/2009 |
|
The use of
MS-MLPA to determine the methylation status of MGMT
in high grade gliomas. |
|
12/08/2008 |
|
Investigation
of using MLPA to detect 22q deletions |
|
11/11/2009 |
|
The use of
array CGH for the detection of copy number changes in patients with Uveal Melanoma |
|
20/11/2009 |
|
Investigation
into the use of BlueGnome CytoChip
FOCUS haematology arrays in the analysis of acute leukaemia samples |
|
22/07/2009 |
|
Validation
of the BlueGnome (Ltd) Cytochip
Focus Constitutional array using abnormal prenatal samples. |
|
05/02/2007 |
|
Validation
of the ElucigeneTM QST*R plus Kit for QF-PCR of
Tissue Samples from Pregnancy Loss |
GREAT |
24/11/2009 |
|
Characterisation
of chromosomal aberrations involved in acquired docetaxel
resistance in human breast cancer cell lines |
|
15/05/2009 |
|
The
investigation of phenotypically abnormal patients
who carry unbalanced and “balanced” chromosome rearrangements using array-CGH |
|
25/08/2009 |
|
Molecular
Characterisation of Heterogeneity of Oligodendrogliomas |
|
05/02/2007 |
|
Evaluation
of the use of Oligonucleotide arrays 4x44K CytoChip-Oligo and CytoChip-Oligo
ISCA for diagnosis of the constitutional imbalance |
GREAT |
05/02/2007 |
|
Dual
platform genome wide microarray analysis of
childhood acute lymphoblastic leukaemia (ALL) patients
with a normal karyotype and patients with a hyperdiploid
karyotype. |
|
05/02/2007 |