From April 1st 2021, NHS genetic testing in England is specified by the National Genomic Test Directory and referral criteria should comply with the associated Rare and Inherited Disease eligibility criteria. Referrals outside the scope of the Test Directory and its associated criteria will not be funded by NHS England and will be subject to a charge. A summary of how to use the Test Directory for rare disease referrals is provided by our Clinicians' Guide to the GMS
For a full list of tests conducted at WRGL, see our Rare Disease service list .
Samples referred for tests not undertaken at our laboratory may be sent to other accredited centres either within or outside the Central and South Genomics Laboratory Hub. We are also happy to accept private and overseas referrals. Please contact Duty Scientist for details and prices.
A wide range of rare disease molecular genetic tests is conducted within our GLH, including next-generation sequencing panels, single gene screens, targeted testing for known or common pathogenic variants, analysis of triplet repeat expansions, methylation studies for imprinting disorders and X-inactivation studies. Please note that from 1st July 2021, testing for certain clinical indications' will be carried out by whole-genome sequencing (WGS)
Referrals for carrier testing or presymptomatic testing for late-onset genetic disorders will only be accepted from a Clinical Geneticist.
Constitutive cytogenetic testing investigates the whole genome for loss or gain of
chromosomal material and structural rearrangements involving chromosomes in
neonatal, paediatric, adult and perinatal cases. A range of tests is conducted at WRGL:
Genome-wide chromosomal microarray (CMA) testing (refer to our User guide) detects
copy number variants (CNVs). It is a high-resolution test used for patients with
neurodevelopmental disorders, dysmorphism or certain congenital abnormalities, and
for fetal losses with specified clinical indications.
Conventional G-banded karyotype analysis is provided for certain referral indications e.g.
where a balanced chromosome rearrangement, sex chromosome imbalance, mosaicism,
or common trisomy is suspected. It is also commonly used as a reflex test for
characterisation of chromosome abnormalities detected by other techniques and for
follow-up studies to establish recurrence risks.
Fluorescent in situ hybridization (FISH)
FISH testing can detect a gain, loss or rearrangement of a specific region of interest. It
is a targeted reflex test for the characterisation of chromosome abnormalities detected
by other techniques and for follow-up studies to establish inheritance.
Quantitative fluorescent PCR (QF-PCR)
This test is primarily used for the rapid diagnosis of common chromosome aneuploidy
syndromes in fetal losses, neonates and paediatric cases, or to determine the genetic
sex of a patient.
Duty Scientist (for routine enquiries): shc-tr.WRGLdutyscientist@nhs.net
Dr Simon Thomas, Lead Clinical Scientist (Molecular Genetics)
Ms Caroline Price, Lead Clinical Scientist (Cytogenetics)
Ms Emma-Jane Cassidy, Principal Clinical Scientist (Microarray service)
Mr Mark Bateman, Principal Clinical Scientist (Pregnancy loss and Solid tissue services)