Diseases in this group include: Bloom syndrome (small babies who remain shorter than normal as they grow, with more lung and ear infections than children normally have; Canavan disease (gradually destroys brain tissue); Cystic fibrosis (causes very thick mucus in the lungs and problems with digesting food); Familial dysautonomia (FD – cannot feel pain, sweat a lot, and have trouble with speech and coordination); Fanconi anemia (do not have enough blood cells and have problems with the heart, kidneys, arms, or legs – are at high risk of cancer; Gaucher disease (causes a type of fat called glucocerebroside to build up in certain cells of the liver, spleen, and bone marrow); Mucolipidosis IV (causes the nervous system to deteriorate, or break down, over time); Niemann-Pick disease (causes a type of fat called sphingomyelin to build up in cells of the liver, spleen, lymph nodes, and bone marrow; Tay-Sachs disease (causes a type of fat called ganglioside to build up in the cells of the brain and nervous system; Torsion dystonia (problem have ongoing spasms that twist the muscles in their arms, legs, and sometimes their body).
Ashkenazi Jewish Carrier Screen
£862.50
A test of 60+ Jewish Panel Diseases. Ashkenazi Jewish genetic diseases are a group of rare disorders that occur more often in people of Eastern European (Ashkenazi) Jewish heritage than in the general population. Even though most of these diseases are severe and can cause early death, some can be treated to reduce symptoms and prolong life. Some of these diseases can be found during pregnancy through chorionic villus sampling (CVS) or amniocentesis. This testing is done usually if one or both parents are carriers of a genetic disease.
Est. Result Turnaround Time : 4 weeks
Related products
Well Man Advanced
£415.00Thyroid function Advanced
£126.50Menstruation problem
£286.35Erectile dysfunction
£286.35
