Results and turnaround times

Results will be returned to the email account or clinician listed on the request form.

The national turnaround time guidance for Rare Disease referrals, from the point at which the referral is complete (all necessary samples, paperwork and information received by the laboratory) are summarised below.

The SW GMS laboratories currently meet or better these targets in around 80-95% of referrals in most testing areas. Any areas of testing subject to delays significantly beyond the target TATs for the majority of samples will be highlighted on this webpage.

In some cases, the laboratories may be able to expedite testing with high clinical urgency – please make the reasons for this clear on referral paperwork.

• Urgent prenatal and neonatal tests for rapid aneuploidy (QF-PCR) and known familial disorders: 3 days
• Newborn screening tests (genomic component only; e.g. cystic fibrosis): 4 days
• Urgent testing for known familial variants (e.g. predictive tests for inherited cancer predisposition and Huntington disease): 14 days
• Prenatal microarray testing: 14 days
• R14 Acutely unwell children with a likely monogenic disorder – whole genome sequencing: 14 days
• Prenatal chromosome analysis (requiring culture): 21 days
• Routine diagnostic referrals (including Next-Generation Sequencing panels, diagnostic single gene tests e.g. Huntington disease, Y-chromosome microdeletions, non-urgent karyotyping and microarray tests): 42 days
• Whole genome sequencing: 84 days

Please note: The turnaround times shown apply only to tests processed within the South West region. Tests processed outside this region may follow different timelines. For further information, please check the relevant provider laboratory’s website or contact them directly by email.

The national turnaround time guidance for cancer referrals, from the point at which the referral is complete (all necessary samples, paperwork and information received by the laboratory) are summarised below.

In some cases, the laboratories may be able to expedite testing with high clinical urgency – please make the reasons for this clear on referral paperwork.

• <3 days; urgent FISH and targeted mutation testing e.g. AML FISH and FLT3/NPM1
• <5 days; pharmacogenomic testing e.g. DPYD
• <7 days; urgent karyotype and FISH, ALL MRD monitoring
• <14 days; urgent gene panels, direct mutation tests, CML monitoring
• <21 days; routine karyotype, panel and FISH e.g. MDS diagnosis
• <28 days: HRD testing
• <84 days; Cancer WGS

Please note: The turnaround times shown apply only to tests processed within the South West region. Tests processed outside this region may follow different timelines. For further information, please check the relevant provider laboratory’s website or contact them directly by email.

When special circumstances require a more urgent result, please flag this on the form and contact the Bristol Genetics laboratory to discuss the best approach.
We aim to report gene panel tests within 7-10 working days of sample receipt at the SWGLH to help ensure that results available to clinicians to guide selection of treatment for cancer.

When special circumstances require a more urgent result, a rapid single gene test may be performed instead of a gene panel. Clinicians or Pathologists should contact the Bristol Genetics laboratory directly to access this service.

Once results are received, please see your local mainstreaming guidance for information on management and Clinical Genetics involvement. If you need advice, contact your local Clinical Genetics service:

rduh.pcgreferrals@nhs.net (or via the Epic system if you are based at the Royal Devon University Healthcare NHS Foundation Trust)

ubh-tr.clinicalgeneticsuhb@nhs.net