Ambry Genetics offers carrier testing for most of the tests on our test menu and offers prenatal testing on a case-by-case basis for most of the conditions listed on the general test menu. Please contact a genetic counselor at (949) 900-5500 to discuss the case prior to sending a fetal sample.
The table below contains just a few examples of tests for which carrier testing and/or prenatal testing has been performed at our lab.
|Alpha-1 antitrypsin deficiency, A1AT deficiency||Alpha-1-Antitrypsin Deficiency||SERPINA1|
|Beta Thalassemia, Sickle Cell Anemia, Sickle-Beta-Thalassemia||Beta Thalassemia (Sickle Cell Anemia, Sickle-Beta-Thalassemia)||HBB|
|Diamond-Blackfan anemia||Diamond-Blackfan Anemia||RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, RPL19, RPL26|
|Gaucher Disease||Gaucher Disease||GBA|
|Hereditary Hemorrhagic Telangiectasia, Osler-Weber-Rendu, Juvenile Polyposis (SMAD4-Related)||HHT Sequencing, Del/Dup & SMAD4-Related HHT|
|Tay-Sachs Disease||Tay-Sachs Disease||HEXA|