Patients

Our regional Genomics Service covers, Cheshire, Merseyside and the Isle of Man. 

Liverpool Centre for Genomic Medicine (LCGM) and our Laboratory Services are located within the Crown Street site of Liverpool Women's University Hospital.  

• We offer telephone, virtual and face to face appointments
• We offer appointments in other trusts within Cheshire and Merseyside
• Our clinicians work with other specialist centres within Cheshire and Merseyside so you may see us jointly in other clinic appointments.

Our current clinic locations 

• Liverpool Women’s University Hospital 
• Alder Hey Children’s Hospital 
• Royal Liverpool University Hospital 
• Liverpool Heart and Chest Hospital 
• Warrington Child Development Centre 
• Clatterbridge child Development Centre 
• Walton centre for Neurology 
• Chester Hospital 
• Ormskirk Hospital 
• Leighton Children’s Centre.

Our main role is to diagnose and counsel families with possible or known inherited disorders. We receive referrals for families who have or at risk of a having a genetic condition. Our team of specialists support families by providing: 

• An accurate diagnosis 
• Information about how a genetic condition may develop 
• Assessments on the risk of transmitting a genetic condition  
• Support for families with understandable information and counselling 

From your initial appointment, we will provide as much information as possible about your reason for visiting us and discuss the options and course of actions that are right for you and your family. Not everyone who comes to our service has a genetic condition or is eligible for genetic testing.

How we help individuals and families  

There are lots of other ways we help individuals and families. In the main we: 

• Help patients to understand the types of genetic testing available
• Help patients to understand the possible outcomes and implications of this genetic testing
• Help patients understand health information about a genetic condition
• Help patients and their family adapt to the impact of a genetic condition for their future health
• Help patients to understand the genetic risks for current and/or future children
• Help patients with, or at risk of, a genetic condition by referring them for appropriate ongoing screening
• Help patients to find support through the NHS, or associated charities, on living with a genetic condition. 

Clinical Geneticists  

Clinical geneticists are medical doctors specialising in the assessment, diagnosis and management of individuals and families affected by genetic disorders. The scope of our referrals covers the entire life course: from in utero life through to old age. Genetic conditions can affect any person and all manner of organ systems throughout the body. 

Genetic Counsellors  

Genetic Counsellors help people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates the following: 

• Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence
• Education about inheritance, testing, management, prevention, resources and research
• Counselling to promote informed choices and adaptation to the risk or condition. 

Family History team  

Our team of Genomic Associates working within Liverpool Centre for Genomic Medicine are responsible for communicating with patients directly by phone to obtain family histories and further clinical information needed to enable genetic counselling and testing for patients with, or at risk of, rare diseases. 

Genomic Practitioner 

Our Genomic Practitioner consents patients and families for Whole Genome Sequencing on behalf of the clinical team as well as provides education and teaching around genetic testing to other healthcare professionals alongside our Clinical Geneticists.    

Administrative team 

Our administrative team consists of clinical personal assistants, medical typists and our appointments team.   

Once a referral has been made and accepted, you will receive a letter asking you to contact the Liverpool Centre for Genomic Medicine to make an appointment through one of our clinic coordinators. You will not receive an appointment without contacting us first. 

Depending on the reason for your referral, you will be offered an appointment either in a telephone clinic, a video clinic or a face-to-face hospital clinic. When you receive your appointment letter, please study it carefully for details of your appointment location and time. 

Sometimes student clinicians may be present for training purposes. If you would rather they weren’t, please notify a member of staff. 

Your partner, relative or friend is welcome to accompany you at your appointment. If you have hearing difficulties or your first language is not English, we can arrange for an interpreter to be present. Please contact us in advance of your appointment to arrange this.   

If for any reason you cannot attend your appointment, please contact us in advance directly on 0151 802 5001 or email: lwft.clingen@nhs.net. We will then arrange another date for you. Every appointment in the NHS freed up could be used to see other patients, including those who have been waiting the longest for an appointment. 

By rearranging an appointment you are not able to attend, you help us to help our other patients.   

We are a research active department with involvement in many national studies and are members of the Musketeers Memorandum Agreement.  

The Musketeers’ Memorandum or 'NIHR UK Rare Genetic Disease Research Consortium Agreement' is a collaboration agreement between 24 NHS organisations to work together on studies about rare diseases. It was put in place to make research into rare diseases easier.  

If you are interested in participating in research, you can contact our research team directly on 0151 702 4346.  

Research saves lives and improves quality of life. Liverpool Centre for Genomic Medicine patients may be invited to take part in research. A member of the healthcare or research team may contact you about this, or ask your genetic counsellor or doctor for more information. 

If you would like to discuss current or future research projects, please contact us and a member of the research team will be in touch.  

ACQUIRED 

A condition or disease originating after birth. An acquired condition is not hereditary. 

ACUTE 

A sudden onset of symptoms or disease which may be severe and/or brief in duration. 

ALLELE 

Alternative forms of a gene responsible for alternative traits. 

AMNIOCENTESIS 

Procedure used in prenatal diagnosis to obtain amniotic fluid which can be used for genetic and other diagnostic tests. This test can be performed as early as 16 weeks gestation. 

ANEUPLOIDY 

The presence of more or fewer than the usual (diploid) number of chromosomes, giving rise to an abnormal chromosome number. There may be partial aneuploidy, where there is the addition or loss of part of a chromosome. 

AUTOSOME 

Any chromosome other than the sex (X or Y) chromosomes. 

AUTOSOMAL DOMINANT 

Where an individual possesses an altered gene and demonstrates characteristics of the condition. The condition will usually be transmitted to children with a fifty per cent chance of an affected child for each pregnancy. 

AUTOSOMAL RECESSIVE 

Where an individual carries an altered gene but it does not affect the individual (they do not display any characteristics of the condition). However, when two carriers with the same altered gene have children there is usually a twenty-five per cent chance of an affected child for each pregnancy. 

BRCA1/BRCA2 

The first breast cancer genes to be identified. 

CARRIER 

An individual who carries an altered gene for a specific condition without symptoms. 

CELL 

The basic structural unit of all living organisms. It is surrounded by a membrane and contains a nucleus that carries genetic material. 

CLINICAL GENETICS 

Clinical Genetics is the medical specialty, which is concerned with the cause, course, diagnosis and treatment of genetic and part-genetic disorders. Clinical geneticists provide a diagnostic service and genetic counselling for individuals and their families with, or at risk of, conditions which may have a genetic basis. 

A genetic counsellor provides information and support to families in making decisions relating to genetic disorders. 

CONSANGUINEOUS 

Where two people share at least one common ancestor ("blood relatives"). 

CONSULTAND 

A person requesting genetic counselling 

CHORIONIC VILLUS SAMPLING 

A method of collecting the chorion cells from the pregnant mother. Chorion cells are situated on the wall of the uterus (womb). They have the same origin as the fetal cells and can, therefore, be analysed to detect certain fetal abnormalities. This test is performed in early pregnancy i.e.11-13 weeks. 

CHROMOSOME 

A rod-like structure present in the nucleus of all body cells (with the exception of the red blood cells), which stores genetic information. Normally, humans have 23 pairs, the unfertilised ova and each sperm carrying a set of 23 chromosomes. On fertilisation the chromosomes combine to give a total of 46 (23 pairs). 

CHRONIC 

Long-term or prolonged disease or condition that can persist or progress over a long period of time. 

CONGENITAL 

A condition that is present at birth, although it can be recognised prenatally, at birth or many years later. A congenital disorder can be genetic or acquired at any time during fetal development. 

DEGREE OF RELATIONSHIP 

The degree of relationship helps define the proportion of genes shared by two blood relatives. First degree relatives (parents, siblings, children) share 1/2 of their genes, second degree relatives (uncles, aunts, nephews, nieces, grandparents, grandchildren and half- siblings) share 1/4 of their genes and third degree relatives (first cousins, great-grandparents and great-grandchildren share 1/8 of their genes. 

DELETION 

The absence of genetic material on a chromosome. 

DIZYGOTIC 

Two cells having been fertilised resulting in twins. 

DNA 

Deoxyribonucleic acid is the ‘building block’ for all genetic material. 

DUPLICATION 

Occurs where a chromosome or part of a chromosome is duplicated. This may happen during cell division prior to fertilisation. 

FAMILIAL 

Characteristic of some or all members of a family. 

FRAGILE SITE 

A site on a chromosome where genetic material may be prone to break. In Fragile X syndrome there is a fragile site on the female X chromosome. 

GAMETE 

A reproductive cell, either the male sperm or the female egg. 

GENE 

The functional and physical unit of heredity passes from parent and offspring. Genes are pieces of DNA, and most genes contain the information for making a specific protein. 

GENETIC COUNSELLING 

The process by which information on genetic disorders is given to a family and supporting them in making their own decisions. 

GENOME 

All the DNA contained in an organism or a cell, which includes both the chromosomes within the nucleus and the DNA in mitochondria. 

GENOTYPE 

The genetic identity of an individual that does not show as outward characteristics. 

INVERSION 

Occurs where a chromosome breaks in two and becomes reattached after turning round 180 degrees. Providing no chromosome material is lost, this abnormality should have no effect on the individual. However, that individual may carry the risk of producing eggs or sperm with the incorrect amount of chromosomal material. 

KARYOTYPE 

The chromosomal complement of an individual, including the number of chromosomes and any abnormalities. The term is also used to refer to a photograph of an individual’s chromosomes. 

LOCUS (LOCI) 

The precise physical site or location of a specific gene on a chromosome. p denotes the short arm of the chromosome q denotes the long arm of the chromosome 

MITOCHONDRIA 

Refers to the small bodies that are responsible for energy production. Mitochondria also carry their own genes and DNA. 

MITOCHONDRIAL INHERITANCE 

The condition can only be transmitted by females in the maternal line. Typically a mitochondrial inherited condition can affect both sexes. 

MITOSIS 

Division of all cells (except the reproductive cells which is called Meiosis) and which results in the daughter cells having the same chromosome number and genetic make-up compared with as the parent cell. 

MONOSOMY 

The total loss of one of a pair of chromosomes. This occurs, for example, in Turner syndrome where one X chromosome is lost leaving a total of 45 chromosomes. 

MONOZYGOTIC 

Two individuals (twins) born together from one sperm and one egg. 

MOSAICISM 

Where a genetic or chromosomal abnormality does not occur in all body cells. The proportion of normal to abnormal cells will determine the severity of the disorder. 

MULTIFACTORIAL INHERITANCE 

This type of inheritance is caused by the summation of the effects of multiple genes interacting with environmental factors to produce a liability to a particular disorder. A person is affected if his or her liability is above a certain threshold. 

MUTATION 

A mutation refers to any change from the normal to an altered form of a particular gene. This may be disease causing or a benign, normal variant. 

NUCLEUS 

A body in the centre of each cell that contains the chromosomes with their genetic material. 

OVUM 

The female reproductive cell, also known as an egg, carrying 23 chromosomes. 

PATTERN OF INHERITANCE 

Describes how the gene is inherited: for example, autosomal dominant, autosomal recessive or X-linked. 

PEDIGREE 

A simplified diagram of a family’s genealogy that shows family member’s relationships to each other and how a particular trait of disease might have been inherited. 

PHENOTYPE 

The observable characteristics and physical appearance of an individual. 

PLACENTA 

A complex structure occurring in pregnancy. It is attached to the wall of the womb and connected to the fetus by the umbilical cord. The fetus receives its nourishment through the placenta and the vessels of the umbilical cord. 

PREDISPOSITION (GENETIC) 

That the individual concerned is intrinsically more prone to develop a particular disorder. 

SEX CHROMOSOME 

One of the two chromosomes that specify an organism’s genetic sex. Humans have two kinds of sex chromosomes, one called X and the other Y. Normal females possess two X chromosomes and normal males one X and one Y. 

SOMATIC CELL 

Any cell in the body except the gametes. 

SPERM 

(abbreviation of spermatozoon) 

The male reproductive cell carrying 23 chromosomes. 

TRAIT 

Any inherited (gene determined) characteristic. 

TRANSLOCATION 

Occurs where there is a rearrangement in which a piece of one chromosome is transferred to another with a different number. 

TWINS 

May be genetically identical (monozygous) when they arise from a single fertilised egg or non-identical (dizygous) when they arise from two separate eggs. 

X-LINKED RECESSIVE 

The form of inheritance where the altered gene is carried on the X chromosome. With this form of inheritance, girls are usually carriers and boys are affected. This is because the male Y chromosome does not carry the compensatory normal gene. 

At Liverpool Women’s University Hospital we are continually working to ensure that our patients and their families have a positive experience. We aim to provide the highest standards of care and facilities to all our patients and visitors. 

We accept that sometimes you may have some comments, suggestions or complaints about your experience that you wish to share with the Trust. We welcome your feedback to help the Trust continually improve the services we provide. 

If you would like to provide us with feedback about your experience of the Liverpool Centre for Genomic Medicine service please go to our PALS Comments, Suggestions & Complaints page.