you can know for sure
Approximately 1 in 30 people have a faulty gene(s). Most of these parents do not find out until their child has been born with a serious or life threatening condition or they have suffered several miscarriages. Genetic disorders are preventable and finding out if you or your partner carries a faulty gene will open the door to choices that may safeguard your family for generations to come. If you are starting a family, this may be a comforting place to begin.
fragile x syndrome
Fragile X syndrome (FXS) is the most common cause of severe learning disability after Down’s Syndrome and the most common known cause of “autistic-like” behaviour. Symptoms can include physical and behavioural characteristics and delays in speech and language development.
Intellectual impairment is severe,however, females can be normal but are mostly impaired. Females can also show problems with ovarian function which can lead to infertility and early menopause.
Female carriers of FXS can also experience ovarian function problems, infertility and easily menopause whilst others show no such problem.
Fragile X can be passed on in a family by individuals who have no apparent signs of this genetic condition. In some families a number of family members appear to be affected, whereas in other families a newly diagnosed individual may be the first family member to exhibit symptoms.
Only mothers need to be tested with the Fragile X syndrome (FXS) Genetic Screening Test
spinal muscular atrophy
Spinal Muscular Atrophy (SMA) is a group of inherited diseases that cause progressive muscle degeneration and weakness, eventually leading to death.
It is a debilitating disorder that destroys the nerve cells for walking, head and neck control, swallowing and breathing. It primarily affects children and is the main genetic cause of death in infancy.
The most severe form is Spinal Muscular Atrophy (SMA) Type I, also called Werdnig-Hoffman disease. Infants with SMA Type I are born with very little muscle tone, weak muscles, and feeding and breathing problems.
Infants with SMA Type II have less severe symptoms during early infancy, but they become progressively weaker with time.
Rarely, SMA may begin in adulthood. This is usually a milder form of the disease.
SMA has a reported carrier frequency of 1 in 60 and approximately 4 out of every 100,000 people are affected by the disorder.
Cystic fibrosis (CF) is one the most common life-threatening inherited disorders found in the UK, affecting over 9,000 people.
Over 2 million people carry the faulty gene which gives a carrier frequency as high as 1 in 25.
Cystic Fibrosis affects the internal organs, especially the lungs causing them to produce excessive amounts of thick sticky mucus. This causes clogging making it difficult to breathe and hard to digest food.
Each week, 5 babies are born with CF and each week 2 young lives are lost to CF. Treatment has improved but average life expectancy is still only 30-40 years. Carrier frequency 1 in 25.
There is currently no cure for CF except for a heart and lung transplant. Gene therapy is believed currently to be the nearest thing to a cure.
Currently drug treatment is the best approach but it only alleviates the symptoms.
Carrier status for one or more of FXS, SMA and CF can be determined in a single blood sample.
The Alef8 Genetic Screening Test screens for seven disorders that are relatively common in Ashkenazi Jews, plus Cystic fibrosis which gives a total screen of eight conditions, this is why the test is known as Alef8.
Each of these conditions can be screened for in a single blood sample.
1 in 30-100 can be affected by these disorders:
- Tay Sachs 1 in 28
- Canavan disease 1 in 55
- Niemann Pick 1 in 90
- Bloom syndrome 1 in 107
- Familial dysautonomia 1 in 30
- Fanconi anaemi 1 in 89
- Cystic fibrosis 1 in 25
- Mucolipidosis 1 in 96
- Gaucher disease 1 in 15
Testing for SMA, CF or Alef8 can be done for couples or individuals. For couples the man’s sample is tested only if the woman is found to be a carrier.
this is my: Genetics Tests
In a UK partnership with BGI Health this is my: clinics are able to offer specific gene testing. If we know what we are looking for we can use specialised new generation sequencing to look for most genetic problems. Please call our team and we will be happy to advise. For further information visit the Genomics website.