Molecular Genetics services

Please note that a sample of blood in EDTA is required for Molecular Genetic testing. DNA will be extracted and stored indefinitely from all samples received, unless we are specifically asked to dispose of the DNA sample following testing.

For a list of common referral types for the Regional Cytogenetics and Molecular Genetics Laboratories, please click here.

From February 2021 the diagnostic testing for several services previously performed in Nottingham was moved to specialist testing laboratories. However if a familial variant was previously reported by this laboratory further familial testing may still be offered for those variants.

In some cases familial/cascade/prenatal testing for variants previously detected in other laboratories or in research projects may be available in genes that are not listed below. This testing will need to be discussed on a case by case basis and the laboratory should be contacted prior to referral of samples.

General reporting time guidelines*

  • Predictive testing for known familial mutations - 14 calendar days
  • Urgent testing affecting the outcome of a pregnancy, including prenatal diagnosis (PND) - 3 calendar days.
    Please contact the laboratory when sending samples for urgent testing to discuss reporting times.
  • Routine testing - 42-84 calendar days depending on the nature of the test and disorder (see below and disease-specific guidelines for further information).
  • Details of target reporting times for the NHS England Genomic Medicine service are shown here: GLH reporting time targets.pdf

* There are some exceptions to these guidelines. For further information see below for the specific guidelines for each disorder.



Reporting time guidelines in
Calendar days (Diagnostic tests)
Angelman syndrome.pdf 42
Charcot Marie Tooth 1A (CMT1A).pdf 42
Cystic Fibrosis.pdf 42
Becker Muscular Dystrophy.pdf 42
Duchenne Muscular Dystrophy (DMD).pdf 42

Fragile X Syndrome.pdf

Fragile X-Associated Tremor and Ataxia Syndrome (FXTAS).pdf 42

Hereditary Breast and Ovarian Cancer (BRCA1, BRCA1 + PALB2).pdf 

Hereditary Haemochromatosis.pdf 42
Hereditary Neuropathy with liability to Pressure Palsies (HNPP).pdf 42
Hereditary Non-Polyposis Colorectal Cancer (HNPCC), Lynch syndrome.pdf 42
Hereditary Sensory and Motor Neuropathy Type 1A (CMT1A).pdf 42
Huntington disease.pdf 42

Microsatellite Instability (MSI) testing.pdf

Multiple Endocrine Neoplasia type 2.pdf 42
Myotonic Dystrophy type 1 (DM1).pdf 42
Prader-Willi syndrome.pdf 42
Rapid Aneuploidy Screening of amniotic fluid samples by QF-PCR.pdf  3
Spinal Muscular Atrophy.pdf 42
Uniparental Disomy for Chromosome 15.pdf 42


Other tests available


The laboratory is part of the integrated ‘East Genomics’ Laboratory service and is therefore responsible for delivery of the genomic tests defined in the new National Genomic Test Directories. Tests not available locally will be delivered either at the East Genomics laboratory hub at Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (link to current website here) or at an appropriate external laboratory.

Other tests, including research tests, may also be available at other laboratories, both in the UK and abroad. Blood samples for this purpose can be sent to this laboratory for DNA extraction and outsourcing to other labs. However, at the current time the payment for tests outside of the National Genomic Test Directory is the responsibility of the referring clinician. The laboratory will assume that the referring clinician has taken responsibility for the cost of these tests by completion of the referral card, and we will send the DNA for testing without prior confirmation with the clinician (unless referred from a GP). Please contact the laboratory to discuss the availability of testing or if you require further information.


Page last updated 03/02/2021. Please note that if printed, this information is only valid on the day of printing.