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East Genomics

Turn around times

For all our tests we are working to exceed the turn around times for Genetic/Genomic tests have been specified by NHS England.

The below table has been updated to include our ‘current’ average turn-around times at our Cambridge Genomics Laboratory (for October 2021), against the national targets that we are working towards. We hope to include data for our local laboratories in Nottingham and Leicester in the new year.

For those marked with an *, these tests are experiencing a significant delay.

Sample reception
Our laboratory has been redesigned to aid rapid turnaround and high throughput of genomic tests

Clinical urgency

Urgent - ultra rapid (Rare Disease and Cancer)

Non-urgent advice: Example tests

Rare diseases - QF-PCR for rapid trisomy detection

Calendar days (target): 3 days

Meeting target: Yes

Rare diseases - PCR-based tests for prenatal diagnosis (PND)

Calendar days (target): 3 days

Meeting target: Yes

Cancer - Urgent haemato-oncology FISH/RT-PCR (e.g. BCR/ABL1, PML/RARA)

Calendar days (target): 3 days

Meeting target: Yes

DPYD

Calendar days (target): 5 days

Meeting target: Yes

Cystic Fibrosis carrier test (pregnancy) (CF EGB)

Calendar days (target): 7 days

Meeting target: No, average 9 days

Cystic Fibrosis diagnostic test (newborn)

Calendar days (target): 7 days

Meeting target: No, average 9 days

Clinical urgency

Urgent - rapid (Rare Disease and Cancer)

Non-urgent advice: Example tests

Rare diseases - Microarray for prenatal / urgent postnatal (e.g. neonatal referrals)

Calendar days (target): 14 days

Meeting target: Yes

Rare diseases - Southern blot tests where the result is needed urgently for Pre-natal diagnosis

Calendar days (target): 14 days

Meeting target: No (estimate 20 days)

Rare diseases - PCR-based tests for predictive testing

Calendar days (target): 14 days

Meeting target: No, average 18 days.

Rare diseases: Confirmation of neonatal results (PCR based)

TBC

Rare diseases: Carrier testing / familial variant testing required in context of pregnancy

Calendar days (target):

Meeting target: No

Solid cancer: Mutation specific molecular pathology tests

Calendar days (target): 14 days

Meeting target: No

Solid cancer - MGMT promoter methlyation

Calendar days (target): 14 days

Meeting target: Yes

Solid cancer: MSI testing (Lynch syndrome or immunotherapy)

Calendar days (target): 28 days

Meeting target: Yes

Cancer - FISH for molecular pathology referrals

Calendar days (target): 14 days

Meeting target: TBC

Haemato-Oncology: Urgent karyotyping

Calendar days (target): 14 days

Meeting target: TBC

Haemato-Oncology: Clonality

Calendar days (target): 14 days

Meeting target: Yes

Haemato-Oncology: Chimerism

Calendar days (target): 14 days

Meeting target: No (average 17 days)

Haemato-Oncology: JAK2V617F, JAK2 exon 12, MPL exon 10, CALR exon 9

Calendar days (target): 14 days

Meeting target? No (average 21 days)

Haemato-Oncology: MPM1 exon 12

Calendar days (target): 14 days

Meeting target? No (average 28 days)

Clinical urgency

Urgent - complex rapid (Rare Disease and Cancer)

Non-urgent advice: Example tests

Urgent panels, gene screens (treatment / antenatal)

Calendar days (target): 21 days

Meeting target - tbc

Clinical urgency

Non-urgent - standard (Somatic Cancer)

Non-urgent advice: Example tests

Standard haemato-oncology karyotyping (e.g. MDS)

Calendar days (target): 21 days

Meeting target: No

Haemato-oncology microarrays

Calendar days (target): 21 days

Meeting target: Yes

Standard molecular haemato-oncology tests

(these include: 1. BCR-ABL diagnostic; 2. BCR-ABL quantitative; 3. CEBPA; 4. c-KIT; 5. MYD88; 6. IgHV mutation status)

Calendar days (target): 21 days

Meeting target: No (Average for tests above: 1, 2 & 3: 35 days; 4 & 5: 28 days; 6. 50 days)

NGS panels for haemato-oncology referrals

Calendar days (target): 21 days

Meeting target: No, average 50 days.

NGS panels for molecular pathology referrals

Calendar days (target): 21 days

Meeting target: awaiting

Clinical urgency

Non-urgent - standard (Rare Disease)

Non-urgent advice: Example tests

Standard paediatric or fetal loss microarray

Calendar days (target): 42 days

Meeting target: No, average 77 days.

Postnatal karyotyping (e.g. fertility or familial microarray follow-up)

Calendar days (target): 42 days

Meeting target: No, average 69 days.

Standard single gene and small gene panel (<10 genes) sequencing

Calendar days (target): 42 days

Meeting target: Yes (often quicker) - except for R134 familia hypercholestrolemia (small gene panel) & CF diagnostic

PCR based tests for diagnostic testing

Calendar days (target): 42 days

Meeting target: Yes

Known familial variants testing including diagnostic confirmation, segregation analysis and carrier testing

Calendar days (target): 42 days

Meeting target: Yes

Standard STR based analysis

Calendar days (target): 42 days

Meeting target: Yes

Clinical urgency

Non-urgent - complex standard (Rare Disease)

Non-urgent advice: Example tests

Large gene-panels (10 or more genes) for standard referral indications

Calendar days (target): 84 days

Meeting target: No, significant delay.

Non-Invasive Pre-natal Testing (NIPT) and Whole Genome Sequencing (WGS)

  • The turnaround time for NIPT is seven days (currently outsourced).
  • WGS turn-around time is 84 days.

* Unfortunately for the tests marked with asterisk, we are experiencing significant delays to results. We are working hard to improve our results. Please bear this in mind when speaking to your patient.

Notes:

  • PCR = polymerase chain reaction
  • STR = short tandem repeat