NHS Lothian

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Genetics Laboratory, South East Scotland Genetic Service, David Brock Building, Western General Hospital
Western General Hospital EH4 2XU , United Kingdom

Accreditation

Active UKAS 8413
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Accreditation Details

Accreditation Body

UKAS

Number

8413

Status

Active

Accreditation is granted under EU Regulation 765/2008 and assessed against ISO/IEC 17025. Data sourced from official UKAS records.

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Test Capabilities (33)

Standard Reference Description Category
G-Banding/Karyotyping G-banding/Karyotyping: | Culturing and processing of human Histopathology / Cytology
Analysis of virtual gene panels with flexibility to update gene panels as defined in GENE-W86 Flexible Scope policy and on Genetics Analysis of virtual gene panels with flexibility to update gene panels as defined in GENE-W86 Flexible Scope policy and on Genetics Molecular Diagnostics / PCR
DNA extraction, quantification and quality check for subsequent in- house analysis, referral to other specialist centres and long term storage DNA extraction, quantification and quality check for subsequent in- house analysis, referral to other specialist centres and long term storage Molecular Diagnostics / PCR
Data analysis and reporting of raw data received from ECRF Data analysis and reporting of raw data received from ECRF Molecular Diagnostics / PCR
Detection of Cystic fibrosis (CFTR) variants Detection of Cystic fibrosis (CFTR) variants Molecular Diagnostics / PCR
Detection of F8 intron 1 inversions by long range PCR Detection of F8 intron 1 inversions by long range PCR Molecular Diagnostics / PCR
Detection of F8 intron 22 inversions by inverse PCR Detection of F8 intron 22 inversions by inverse PCR Molecular Diagnostics / PCR
Detection of genetic variants of SNVs and small indels managed under flexible scope to add and remove Sanger Sequencing Detection of genetic variants of SNVs and small indels managed under flexible scope to add and remove Sanger Sequencing Molecular Diagnostics / PCR
Detection of repeat expansions in target regions of AR, ATN1, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A, DMPK, FXN, HTT, JPH3, PRNP and TBP genes Detection of repeat expansions in target regions of AR, ATN1, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A, DMPK, FXN, HTT, JPH3, PRNP and TBP genes Molecular Diagnostics / PCR
Detection of repeat expansions in target regions of the FMR1 and C9ORF72 genes Detection of repeat expansions in target regions of the FMR1 and C9ORF72 genes Molecular Diagnostics / PCR
Flexible Scope list GENE-W82 Flexible Scope list GENE-W82 Molecular Diagnostics / PCR
GENE-W82 GENE-W82 Molecular Diagnostics / PCR
Genetics Flexible Scope list GENE- W82 Genetics Flexible Scope list GENE- W82 Molecular Diagnostics / PCR
Genomics analysis for the purpose of clinical diagnosis of rare disease, inherited and acquired cancer Genomics analysis for the purpose of clinical diagnosis of rare disease, inherited and acquired cancer Molecular Diagnostics / PCR
Haematological/Oncology disorders. (Preparative Pre-examination steps listed first) Haematological/Oncology disorders. (Preparative Pre-examination steps listed first) Molecular Diagnostics / PCR
Library preparation including capture of whole exomes for the detection of SNVs and small insertions/ deletions Library preparation including capture of whole exomes for the detection of SNVs and small insertions/ deletions Molecular Diagnostics / PCR
Pre case workups are designed for specific disorders. Multiplex PCR of microsatellite repeat regions specific to each test Pre case workups are designed for specific disorders. Multiplex PCR of microsatellite repeat regions specific to each test Molecular Diagnostics / PCR
Rapid detection of common trisomies Rapid detection of common trisomies Molecular Diagnostics / PCR
Targets as defined in GENE-W86 Targets as defined in GENE-W86 Molecular Diagnostics / PCR
Whole genome amplification (WGA) via multiple displacement amplification (MDA) followed by multiplex PCR with pre designed assay [see above] Whole genome amplification (WGA) via multiple displacement amplification (MDA) followed by multiplex PCR with pre designed assay [see above] Molecular Diagnostics / PCR
Break-apart probes Break-apart probes Other
By detection of microscopic chromosomal imbalance (gains and losses) expressed as changes to copy number By detection of microscopic chromosomal imbalance (gains and losses) expressed as changes to copy number Other
Copy Number / Amplification Copy Number / Amplification Other
Deletion Deletion Other
Developmental Disorders Developmental disorders Other
Flexible Scope policy and on Flexible Scope policy and on Other
Fusion products Fusion products Other
Insertion Insertion Other
Prenatally detected Disorders Prenatally detected disorders Other
Reproductive Medicine Disorders Reproductive medicine disorders Other
Scope policy and on Flexible Scope list GENE-W82 Scope policy and on Flexible Scope list GENE-W82 Other
Scope policy and on Genetics Scope policy and on Genetics Other
Under flexible scope to add and remove commercial probes as defined in GENE-W86 Flexible Under flexible scope to add and remove commercial probes as defined in GENE-W86 Flexible Other

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