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.


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 - 28-56 calendar days depending on the nature of the test and disorder (see below and disease-specific guidelines for further information).

* 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 and Prader-Willi syndromes.pdf  28
Charcot Marie Tooth 1A.pdf 28
Charcot Marie Tooth 1X - Cx32_GJB1.pdf 56
Cystic Fibrosis.pdf  28
DMD_BMD.pdf 28
Duane-Radial Ray Syndrome (SALL4).pdf 56
Duchenne - Becker Muscular Dystrophy (DMD - BMD).pdf 28
Familial Adenomatous Polyposis (APC and MUTYH).pdf 56
Fragile X Syndrome (FRAXA).pdf 28
Fragile X-Associated Tremor and Ataxia Syndrome (FXTAS).pdf 28
Hereditary Breast and Ovarian Cancer (BRCA1 - BRCA2).pdf 56
Hereditary Haemochromatosis (HFE).pdf 28
Hereditary Neuropathy with Liability to Pressure Palsies (HNPP HLPP).pdf 28
Hereditary Non-Polyposis Colorectal Cancer (HNPCC), Lynch Syndrome (MLH1, MSH6 &PMS2).pdf 56
Hereditary Sensory and Motor and Neuropathy Type 1A (HMSN1A) (CMT1A).pdf 28
Holt-Oram Syndrome (TBX5).pdf 56
Huntington Disease (HD).pdf 28
Idiopathic Congenital Nystagmus (FRMD7).pdf 56
Leber Hereditary Optic Neuropathy (LHON).pdf  28
Microsatellite Instability (MSI) Testing.pdf  56
Myotonic Dystrophy Type I (DM1).pdf 28
Okihiro Syndrome - Duane-Radial Ray syndrome - Acro-Renal-Ocular Syndrome (SALL4).pdf 56
 Polycystic Kidney Disease (Autosomal Dominant) (PKD1/PKD2).pdf 56
Prader-Willi Syndrome (PWS).pdf 28
Rapid Aneuploidy Screening of amniotic fluid samples by QF-PCR.pdf 3
Rett Syndrome (MECP2).pdf 56
Spinal Muscular Atrophy (SMA).pdf 28
Townes-Brocks Syndrome (SALL1).pdf 56
Uniparental Disomy for Chromosome 14 (UPD14).pdf 28
Uniparental Disomy for Chromosome 15 (UPD15).pdf  28
Uniparental Disomy for Chromosome 7 (UPD7).pdf 28


Other tests available

Many other tests are 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, the payment for these tests is the responsibility of the referring clinician. For all outsourced samples, 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 16/04/2019. Please note that if printed, this information is only valid on the day of printing.