Notification of changes to testing strategy

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Leeds Genetics Laboratory
Ashley Wing, St James's University Hospital, Leeds LS9 7TF
http://www.leedsth.nhs.uk/a-z-of-services/the-leeds-genetics-laboratory/
CPA accredited laboratory
Head of Molecular Genetics
Ruth Charlton PhD FRCPath
Tel: 0113 206 5205
Fax: 0113 246 7090
Notification of changes to testing strategy: Pheochromocytoma gene panels
As a valued service user we would like to inform you of recent changes to our testing strategy for
pheochromocytoma referrals.
Until now we have been offering pheochromocytoma testing through two separate pipelines:
(1) Clonal sequencing of all VHL, SDHB, SDHC, SDHD, SDHAF2, PRKAR1A, TMEM127 and MAX coding exons and
exons 8, 10, 11, 13-16 of RET. MLPA dosage analysis of coding exons in VHL, SDHB, SDHC, SDHD and SDHAF2
genes. Cost: £530. TAT:40 days
(2) Clonal sequencing and dosage analysis of VHL, SDHA, SDHB, SDHC, SDHD, SDHAF2, PRKAR1A, TMEM127,
MAX, NF1 and RET (offered as a subset of the cancer genes panel). Cost: £860. TAT: 80 days.
From this point onwards we will only be offering a single pheochromocytoma service.
Details of the changes made are summarised below.
Gene content of pheochromocytoma panel
 VHL, SDHA, SDHB, SDHC, SDHD, SDHAF2, PRKAR1A, TMEM127, MAX, NF1 and RET.
Sequence analysis
 Gene targeting prior to sequencing performed using Agilent SureSelect Custom Design reagent
(hybridisation capture) rather than PCR.
Dosage assessment
 Screening for dosage changes is now performed by comparative depth of coverage analysis of
NGS data.
 Where a dosage change is detected it will be confirmed by an independent method i.e. MLPA.
Test sensitivity
 Estimated as at least 95% and comparable to previous method of analysis
 As with the previous assay, test sensitivity for regions of SDHA may be reduced due to the
presence of highly homologous pseudogenes.
Charging and turnaround times for sequencing and dosage
 Diagnostic testing: - £610. 40day TAT.
Should you also be interested in our extended cancer panel menu, please see our website for
details and current referral forms.
Updated referral form
 http://www.leedsth.nhs.uk/a-z-of-services/the-leeds-genetics-laboratories/moleculargenetics/test-pages/cancer-chip-panel/
Please contact the laboratory if you require further information.
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