Frequently Asked Questions
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What are the 39 known Ashkenazic genetic diseases? · · ·
Autosomal Recessive Polycystic Kidney Disease
Carnitine Palmitoyltransferase II Deficiency
Congenital Disorder of Glycosylation 1a
Costeff Optic Atrophy Syndrome
Factor XI Deficiency
Familial Mediterranean Fever
Fanconi Anemia Type C
Fragile X (women only)
Glucose-6-Phosphate Dehydrongenase Deficiency
Glycogen Storage Disease Type 1a
Glycogen Storage Disease Type 3
Inclusion Body Myopathy
Joubert Syndrome 2
Lipoamide Dehydrogenase Deficiency (MSUD 3)
Maple Syrup Urine Disease Type 1B
Megalencephalic Leukoencephalopathy with Subcortical Cysts
Mucolipidosis Type 4
NEB-related Nemaline Myopathy
Niemann-Pick Disease Type A
Phenylalanine Hydroxylase Deficiency
Polyglandular Autoimmune Syndrome 1
Smith Lemli Opitz Syndrome
Spinal Muscular Atrophy
Usher Syndrome Type 1F
Usher Syndrome Type 3A
Walker Warburg Syndrome
What is the difference between Dor Yeshorim and Jscreen? · · ·
Individuals screened through Dor Yeshorim do not receive copies of their results. Dor Yeshorim results are only used to determine whether you and your partner carry the same disease gene and are therefore at risk for having children with that disease. If you screen through JScreen, you will receive copies of your results and will know your carrier status for each disease on the panel. Dor Yeshorim screens for 7 disease in their standard panel and JScreen tests for 106. Please click here to see more specific information.
Does being a carrier of a disease mean that I am sick or can I get sick from this disease? · · ·
No, carriers will not develop the disease. For the conditions on our screening panels, a person must have two copies of the gene, one from each parent, to have the condition.
If I don’t have a family history of any of these genetic diseases, do I still need to be screened? · · ·
Yes! The vast majority of children with these diseases are born to parents who have no family history of the disease. This is because, while there have been generations of healthy carriers in the family, no family members happened to have a child with another carrier. Remember that carriers are healthy and don’t have symptoms of the disease. The only 2 ways to find out you are a carrier are:
1.To have an affected child.
2.To be screened.
Screening allows couples to know ahead of time that they are at risk and to take steps toward having healthy children.