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Learn about the testing options that can detect these diseases and conditions.

MyTestingOptions.com will continue to add more testing options as they become available through Genzyme. Email me when more testing options are added to this website.

A

Anencephaly

B

Bloom Syndrome

C

Canavan Disease
Chromosome Abnormalities
Cystic Fibrosis (CF)

D

Down Syndrome

F

Familial Dysautonomia
Fanconi Anemia Group C
Fragile X syndrome

G

Gaucher Disease
Glycogen Storage Disease Type 1a

I

Inherited Diseases

M

Maple Syrup Urine Disease (MSUD)
Mucolipidosis Type IV

N

Niemann-Pick Disease Type A

O

Open Neural Tube Defects

S

Sickle Cell Disease
Spina Bifida
Spinal Muscular Atrophy

T

Tay-Sachs Disease
Trisomy 13
Trisomy 18
Trisomy 21 (also known as Down syndrome)