DNA related genetic diseases

Earliest Week: 1
Latest Week: 42

Fragile X syndrome screen

The most common cause of severe learning disability after Down’s syndrome. Intellectual impairment in boys is mild to severe; girls can be normal but a large proportion are impaired. Only mothers need to be tested. Carrier frequency 1 in 150.

Cystic fibrosis screen

A serious condition in which glands produce excessive amounts of thick mucus in the lungs and digestive tract. Treatment has improved but average life expectancy is still only 30-40 years. Carrier frequency 1 in 25.

Spinal Muscular Atrophy

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. Carrier frequency 1 in 60.

Alef8

Seven disorders that are relatively common in Ashkenazi Jews, plus CF, in a single blood sample. Carrier frequencies 1 in 30-100.