The Counsyl Foresight™ Carrier Screen 180 Kimball Way | South San Francisco, CA 94080 www.counsyl.com | [email protected] | (888) COUNSYL The Counsyl Foresight Carrier Screen - Disease Reference Book 11-beta-hydroxylase-deficient Congenital Adrenal Hyperplasia .................................................................................................................................................................................... 8 21-hydroxylase-deficient Congenital Adrenal Hyperplasia ...........................................................................................................................................................................................10 6-pyruvoyl-tetrahydropterin Synthase Deficiency ..........................................................................................................................................................................................................12 ABCC8-related Hyperinsulinism........................................................................................................................................................................................................................................ 14 Adenosine Deaminase Deficiency .................................................................................................................................................................................................................................... 16 Alpha Thalassemia.............................................................................................................................................................................................................................................................. 18 Alpha-mannosidosis........................................................................................................................................................................................................................................................... 20 Alpha-sarcoglycanopathy................................................................................................................................................................................................................................................... 22 Alstrom Syndrome.............................................................................................................................................................................................................................................................. 24 AMT-related Glycine Encephalopathy .............................................................................................................................................................................................................................. 26 Andermann Syndrome....................................................................................................................................................................................................................................................... 28 Argininemia ......................................................................................................................................................................................................................................................................... 30 Argininosuccinic Aciduria................................................................................................................................................................................................................................................... 32 ARSACS................................................................................................................................................................................................................................................................................. 34 Aspartylglycosaminuria...................................................................................................................................................................................................................................................... 36 Ataxia with Vitamin E Deficiency ....................................................................................................................................................................................................................................... 38 Ataxia-telangiectasia........................................................................................................................................................................................................................................................... 40 ATP7A-related Disorders.................................................................................................................................................................................................................................................... 42 Autosomal Recessive Osteopetrosis Type 1.................................................................................................................................................................................................................... 44 Bardet-Biedl Syndrome, BBS1-related ............................................................................................................................................................................................................................. 46 Bardet-Biedl Syndrome, BBS10-related ........................................................................................................................................................................................................................... 48 Bardet-Biedl Syndrome, BBS12-related ........................................................................................................................................................................................................................... 50 Bardet-Biedl Syndrome, BBS2-related ............................................................................................................................................................................................................................. 52 Beta-sarcoglycanopathy..................................................................................................................................................................................................................................................... 54 Biotinidase Deficiency ........................................................................................................................................................................................................................................................ 56 Bloom Syndrome ................................................................................................................................................................................................................................................................ 58 Calpainopathy ..................................................................................................................................................................................................................................................................... 60 Canavan Disease................................................................................................................................................................................................................................................................. 62 Carbamoylphosphate Synthetase I Deficiency ............................................................................................................................................................................................................... 64 Carnitine Palmitoyltransferase IA Deficiency .................................................................................................................................................................................................................. 66 Carnitine Palmitoyltransferase II Deficiency ................................................................................................................................................................................................................... 68 Cartilage-hair Hypoplasia................................................................................................................................................................................................................................................... 70 Cerebrotendinous Xanthomatosis ................................................................................................................................................................................................................................... 72 Citrullinemia Type 1............................................................................................................................................................................................................................................................ 74 CLN3-related Neuronal Ceroid Lipofuscinosis ................................................................................................................................................................................................................ 76 CLN5-related Neuronal Ceroid Lipofuscinosis 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