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49 matching records.

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Keyword: Genetics; Language: English

Adrenoleukodystrophy (ALD)

ALD Life

Adrenoleukodystrophy (ALD) is caused by a genetic fault that means those affected are unable to process Very Long Chain Fatty Acids (VLCFAs). It is thought that these VLCFAs accumulate and destroy the myelin sheath that covers the nerves in the body ...

English - Online Resource

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Adrenoleukodystrophy (ALD) Watch online

ALD Life

Adrenoleukodystrophy (ALD) is caused by a genetic fault that means those affected are unable to process Very Long Chain Fatty Acids (VLCFAs). It is thought that these VLCFAs accumulate and destroy the myelin sheath that covers the nerves in the body ...

English - Video

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ALK Mutation (Gene Rearrangement)

Lab Tests Online UK

To detect an ALK gene rearrangement in tumour tissue in order to guide non-small cell lung cancer therapy

English - Online Resource

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Alkaptonuria

the NHS website

Alkaptonuria, or 'black urine disease', is a rare inherited disorder that prevents the body fully breaking down two protein building blocks (amino acids), called tyrosine and phenylalanine. It results in a build-up of a chemical called homogentisic a...

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Alpha-1 Antitrypsin Deficiency

Patient UK

Alpha-1 antitrypsin deficiency is an inherited genetic condition. A genetic condition is one that can be passed on from your parents through your genes. In alpha-1 antitrypsin deficiency the result of a genetic abnormality leads to lung and, in some ...

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Alström Syndrome

Alström Syndrome UK

Alström Syndrome is an ultra rare recessively inherited genetic disorder, which means that both parents will carry the gene although probably be unaffected themselves.

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Alström Syndrome UK (website)

Alström Syndrome UK

Alstrӧm Syndrome UK is a patient-led organisation who take pride in offering high quality support services which include access to the AS specialist clinics. During these clinics families and individuals can be seen by medical experts to maintain a g...

English - Online Resource

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Amniocentesis

Patient UK

The most common reason for a pregnant woman to be offered amniocentesis is to see if a developing baby has a chromosomal disorder such as Down's syndrome. Amniocentesis is a procedure that is carried out during pregnancy. The most common reason for a...

English - Online Resource

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An Introduction to Alkaptonuria (AKU)

Alkaptonuria (AKU) society

AKU is a manageable condition which affects the way the body breaks down protein. Children with AKU have a defect in the process which breaks down part of a protein called Tyrosine (TYR). This leads to the build up of an acid called Homogentisic acid...

English - Easy Read / Learning Disabilities

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Anti-dsDNA

Lab Tests Online UK

Also Known As Antibody to ds-DNA Native double-stranded DNA antibody Anti-DNA Double stranded DNA antibody This test measures the amount of antibody to double-stranded deoxyribonucleic acid (anti-dsDNA) that may be present in the blood. An...

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Are you worried about… bowel cancer?

Macmillan Cancer Support

A leaflet discussing how your genes and family history can affect your risk of developing bowel cancer.

English - Online Resource

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Are you worried about… breast cancer?

Macmillan Cancer Support

A leaflet discussing how your genes and family history can affect your risk of developing breast cancer.

English - Online Resource

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Are you worried about… cancer?

Macmillan Cancer Support

A leaflet discussing how your genes and family history can affect your risk of developing cancer.

English - Online Resource

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Are you worried about… ovarian cancer?

Macmillan Cancer Support

A leaflet discussing how your genes and family history can affect your risk of developing ovarian cancer.

English - Online Resource

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Are you worried about… prostate cancer?

Macmillan Cancer Support

A leaflet discussing how your genes and family history can affect your risk of developing prostate cancer.

English - Online Resource

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Beta thalassaemia and pregnancy

Royal College of Obstetricians and Gynaecologists

This information is for you or if you have beta thalassaemia major or intermedia and would like to know more about what this means in pregnancy.

English - Online Resource

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Cancer genetics - how cancer sometimes runs in families

Macmillan Cancer Support

Essential reading for anyone who is worried, or has been advised, that cancer may run in their family. We explain what we now know about this subject and provide information about genetic counselling and testing through the NHS. You’ll also find advi...

English - Online Resource

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Chromosomal Disorders

Genetic Alliance UK

Chromosomal disorders can result from changes in either the number or structure of the chromosomes. Changes in the number of chromosomes happen when there are more or fewer copies of a particular chromosome than usual. Changes in chromosome structure...

English - Online Resource

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Clopidogrel (CYP2C19 Genotyping)

Lab Tests Online UK

Also Known As: Clopidogrel Pharmacogenetic Testing CYP2C19 Genotype Formal Name: CYP2C19 Sequence Genotype To help evaluate your likely response to the antiplatelet drug clopidogrel by detecting variations in the gene (CYP2...

English - Online Resource

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Di George syndrome (22q11 deletion)

the NHS website

Di George syndrome is a severe genetic disorder that is noticeable at birth. At the very worst, it can result in heart defects, learning difficulties, a cleft palate and potentially many other problems. However, not everyone is severely affected and ...

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DNA, Genes, Chromosomes and Mutations

Genetic Alliance UK

Humans, like every other organism, are made up of cells. We all start off as just one cell at the time of fertilisation. As the single cell divides, all genes are copied so that every new cell possesses a full set of genetic material: the genome. The...

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Exon skipping

Muscular Dystrophy UK

In order to explain the concept of exon skipping, it is first necessary to explain how genes work and how mutations in the dystrophin gene can cause both Duchenne and Becker muscular dystrophy

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Facioscapulohumeral muscular dystrophy (FSHD)

Muscular Dystrophy UK

FSHD is a muscle-wasting condition caused by a genetic mutation, which switches on a gene that shouldn’t normally be switched on. The name describes the areas where FSHD usually causes weakened muscles: ‘facio’ = facial ‘s...

English - Online Resource

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Family history, genes and breast cancer (BCC32)

Breast Cancer Care

This booklet explains how family history can sometimes affect your breast cancer risk. It looks at how risk is assessed, the options for managing your risk and other things you may need to consider. It also includes information on genetic testing. La...

English - Online Resource

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Family history, genes and breast cancer (BCC32)

Breast Cancer Care

This booklet explains how family history can sometimes affect your breast cancer risk. It looks at how risk is assessed, the options for managing your risk and other things you may need to consider. It also includes information on genetic testing. La...

English - Audio

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Genetic Alliance UK

Genetic Alliance UK

We are the national charity working to improve the lives of patients and families affected by all types of genetic conditions. We are an alliance of over 200 patient organisations. We are home to Rare Disease UK – the national campaign...

English - Website

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Genetic Disorders

Genetic Alliance UK

A genetic disorder is a disease caused by changes, or mutations, in an individual’s DNA sequence. Genetic disorders can be divided into three different categories: single gene, chromosomal or complex disorders.

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Genetics

the NHS website

Genetics is the branch of science that deals with how you inherit your physical and behavioural characteristics. The genetic information that controls these characteristics, such as the colour of your hair and eyes, is located in genes (single units ...

English - Online Resource

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Hereditary haemorrhagic telangiectasia (HHT)

the NHS website

Hereditary haemorrhagic telangiectasia (HHT) is an inherited genetic disorder that affects the blood vessels. It's known as Osler-Weber-Rendu syndrome. People with HHT have some blood vessels which haven't developed properly and sometimes cause bl...

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HLA Testing

Lab Tests Online UK

Also Known As: Tissue Typing; HLA Typing; Histocompatibility Testing; HLA Crossmatching; HLA Antibody; Testing/Screening/Identification Formal Name: Human Leukocyte Antigen; HLA Oligotyping; HLA Sequence-based Typing T...

English - Online Resource

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HLA-B27

Lab Tests Online UK

Also Known As: HLA-B27 antigen; B27 To find out whether you have human leucocyte antigen B27 (HLA-B27) on the surface of your cells; to help assess whether you might have an autoimmune disorder associated with the presence of HLA-B27

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Homocystinuria

the NHS website

Homocystinuria (HCU) is a rare but potentially serious inherited condition. It means the body can't process the amino acid methionine. This causes a harmful build-up of substances in the blood and urine. Normally, our bodies break down protein ...

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How AKU is Inherited

Alkaptonuria (AKU) society

Genes carry the information that determines the traits or characteristics that are passed on to us, or inherited from our parents. Blood relatives have a large number of the same genes in common. This is why family members may have many similar trai...

English - Online Resource

Available for download

Inheritance and genetics

Muscular Dystrophy UK

Many muscle-wasting conditions have a genetic cause, which means that they can be passed down generations (inherited). However not all are inherited in the same way. It’s important to have an understanding of what condition you or your family has. W...

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Klinefelter syndrome

the NHS website

Klinefelter syndrome (sometimes called Klinefelter's, KS or XXY) is where boys and men are born with an extra X chromosome. Chromosomes are packages of genes found in every cell in the body. Two types of chromosome, called the sex chromosomes, det...

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Living with Genetic Condition

Genetic Alliance UK

Living with a genetic condition or being a family member, carer or friend of someone living with a genetic condition can be challenging. This section contains information about finding information about a rare or genetic condition and finding the sup...

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Maple syrup urine disease

the NHS website

Maple syrup urine disease (MSUD) is a rare but serious inherited condition. It means the body cannot process certain amino acids (the "building blocks" of protein), causing a harmful build-up of substances in the blood and urine. Normally, our ...

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Patau's syndrome

the NHS website

Patau's syndrome is a serious rare genetic disorder caused by having an additional copy of chromosome 13 in some or all of the body's cells. It's also called trisomy 13. Each cell normally contains 23 pairs of chromosomes, which carry the genes yo...

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Pharmacogenetic Tests

Lab Tests Online UK

We don’t all respond to the same drugs in the same way. Sometimes a drug will work for one person and not for another, or may cause different side-effects in different people. Our individual responses can be due to the genes we have inherited.

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Predictive genetic tests for cancer risk genes

the NHS website

Cancer is not usually inherited, but some types – mainly breast, ovarian and prostate cancer – can be strongly influenced by genes and can run in families. We all carry certain genes that are normally protective against cancer – they correct any DNA...

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PSEN1 Test

Lab Tests Online UK

Also known as: PS1; PS-1; AD3; Presenilin 1; S182 To screen for a rare mutation in the PSEN1 gene known to be associated with Early Onset Familial Alzheimer’s Disease (EOFAD)

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The Alkaptonuria Society

Alkaptonuria (AKU) society

The AKU Society is a patient group supporting patients with alkaptonuria. It was founded in 2003 by a patient Robert Gregory and his doctor Professor Ranganath. Living with AKU can be challenging, with loss of mobility and pain affecti...

English - Online Resource

Available for download

Trimethylaminuria ('fish odour syndrome')

the NHS website

Trimethylaminuria (TMAU) is an uncommon condition that causes an unpleasant, fishy smell. It's also called "fish odour syndrome". Sometimes it's caused by faulty genes that a person inherits from their parents, but this isn't always the case. T...

English - Online Resource

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Turner syndrome

the NHS website

Turner syndrome is a genetic condition that only affects females. The condition was named after Dr Henry Turner who discovered it in 1938. It is caused by an abnormal sex chromosome and affects about 1 in every 2,000 baby girls. Most females are born...

English - Online Resource

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Warfarin Sensitivity Testing

Lab Tests Online UK

Also Known As Warfarin Sensitivity Genotyping Formal Name: CYP2C9 Genotype; VKORC1 Genotype To determine whether you have CYP2C9 and/or VKORC1 genetic variations and are likely to need lower, or less commonly, higher tha...

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What is Alkaptonuria

Alkaptonuria (AKU) society

It’s caused by a problem with a gene and leads to a build-up of a substance called homogentisic acid (HGA). HGA builds up in connective tissue, especially cartilage, and over time causes it to darken and become brittle. This discolouration is known a...

English - Online Resource

Available for download

Wilson’s Disease

British Liver Trust

Wilson’s disease is a disorder in which you have a higher than normal amount of copper in your body. An overload of copper is poisonous (toxic) and can damage your liver, brain and other organs.The overload is caused by a genetic defect that prevents...

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Wilson’s Disease Watch online

British Liver Trust

Wilson’s disease is a disorder in which you have a higher than normal amount of copper in your body. An overload of copper is poisonous (toxic) and can damage your liver, brain and other organs.The overload is caused by a genetic defect that prevents...

English - Video

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Wilsons Disease

Patient UK

Wilson's disease is a genetic disorder in which copper builds up in the body, mainly in the liver and brain. Without any treatment, the build-up of copper can cause serious symptoms. Treatment is with medication to remove the excess copper and/or to ...

English - Booklet / Leaflet

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