GEMINI clinical exome

  • Accredited
  • 500+ reports issued for this test
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Gene / Locus Coverage at 20x Methodology
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Gene / Locus Methodology Detection {{key}}
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Gene / Locus Detection {{key}} Methodology
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* ClinVar column is number of pathogenic variants reported in ClinVar
* HGMD column is the number of pathogenic variants reports in HGMD




Gene Methodology Detection
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Multiple samples for this test

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Cambridge University Hospitals laboratory

Cambridge University Hospitals is one of the largest and best-known NHS trusts in the United Kingdom.

It is a leading national centre for specialist treatment, a government-designated comprehensive biomedical research centre, one of only five academic health science centres in the UK and a university teaching hospital with a worldwide reputation.

NHS Regional Genetics Centre

The Genetic Testing Laboratory is part of the East Anglian Medical Genetics Service. The genetics laboratories offer cytogenetic (chromosome) and molecular genetic (DNA) analysis.

The laboratories are located within purpose built facilities (built 2007), and are rapidly expanding with more than 40 staff consisting of clinical scientists, biomedical scientists, pre-registration scientists, genetic technologists and administration staff.

Browse all tests from this laboratory only

Addenbrooke's Hospital

Address:
East Anglian Medical Genetics Service
Genetics Laboratories
Box 143
Level 6
Addenbrooke's Treatment Centre
Cambridge University Hospitals

Hills Road
Cambridge
CB2 0QQ
United Kingdom
Contact:
Email: geneticslaboratories@nhs.net
Telephone: (+44) 1223 348 866

Accreditation
CPA Clinical Pathology Accreditation (UK) Reference no: 1275

Laboratory procedures

Test design
Criteria for choosing genes
In-house clinicians, based on literature review.
Test validation
Validated on Sanger-genotyped samples.
Review of genes
On test creation.
Variant interpretation
Basis for interpretation
Following professional guidelines from ACGS.
Variant databases used
LOVD, HGMD, ClinVar, DECIPHER, locus specific databases.
Population databases used
ExAC, 1000 genomes, ESP.
Inhouse data and annotation used
Experience from previous reports.
Computational predictions consulted
Alamut, PolyPhen, SIFT, Align GVGD, MutationTaster, splicing predictors.
Usage of primary publications
Literature searches are performed to aid evaluation of variants’ clinical significance.
Clinical/research support for difficult cases
All clinical support is down to referring clinician.
Re-evaluation after the report has been issued
Variants are re-evaluated upon request from referring clinician.
Reporting and followup
Variants reported
Pathogenic mutations and variants of uncertain clinical significance.
Report follow-up consultation
Referring clinicians have responsibility for patient follow up. The clinician can contact the lab for clarification of a result/report content and to determine what follow up testing may be appropriate/is available.
Contact information for follow-up questions
By e-mail on geneticslaboratories@nhs.net
Clinical management recommendation
Any clinical decisions rest with the referring clinician. Any management advice is based on ACGS best practice guidelines & feedback from national QA schemes.