Tests by Specialty- Carrier Screening and Prenatal

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.

Disease Test Genes
Alpha-1-Antitrypsin Deficiency Alpha-1-Antitrypsin Deficiency SERPINA1
Beta Thalassemia, Sickle Cell Anemia, Sickle-Beta-Thalassemia Beta Thalassemia (Sickle Cell Anemia, Sickle-Beta-Thalassemia) HBB
Cystic Fibrosis Cystic Fibrosis Testing CFTR
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 ACVRL1, ENG, SMAD4
Tay-Sachs Disease Tay-Sachs Disease HEXA
Thrombophilia (Factor V-Leiden, Prothrombin-Factor II G20210A, MTHFR C677T, and MTHFR A1298C), Factor V-Leiden Thrombophilia FlexPanel F5, F2, MTHFR