The Myriad Foresight® Carrier Screen 180 Kimball Way | South San Francisco, CA 94080 www.myriadwomenshealth.com | [email protected] | (888) 268-6795 The Myriad Foresight® Carrier Screen - Disease Reference Book 11-beta-hydroxylase-deficient Congenital Adrenal Hyperplasia ...............................................................................................................................................................................8 6-pyruvoyl-tetrahydropterin Synthase Deficiency....................................................................................................................................................................................................10 ABCC8-related Familial Hyperinsulinism..................................................................................................................................................................................................................12 Adenosine Deaminase Deficiency ............................................................................................................................................................................................................................14 Alpha Thalassemia ....................................................................................................................................................................................................................................................16 Alpha-mannosidosis ..................................................................................................................................................................................................................................................18 Alpha-sarcoglycanopathy .........................................................................................................................................................................................................................................20 Alstrom Syndrome ....................................................................................................................................................................................................................................................22 AMT-related Glycine Encephalopathy......................................................................................................................................................................................................................24 Andermann Syndrome ..............................................................................................................................................................................................................................................26 Argininemia...............................................................................................................................................................................................................................................................28 Argininosuccinic Aciduria..........................................................................................................................................................................................................................................30 Aspartylglucosaminuria.............................................................................................................................................................................................................................................32 Ataxia with Vitamin E Deficiency..............................................................................................................................................................................................................................34 Ataxia-telangiectasia.................................................................................................................................................................................................................................................36 ATP7A-related Disorders..........................................................................................................................................................................................................................................38 Autoimmune Polyglandular Syndrome Type 1.........................................................................................................................................................................................................40 Autosomal Recessive Osteopetrosis Type 1 ............................................................................................................................................................................................................42 Autosomal Recessive Polycystic Kidney Disease, PKHD1-related...........................................................................................................................................................................44 Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.................................................................................................................................................................................46 Bardet-Biedl Syndrome, BBS1-related .....................................................................................................................................................................................................................48 Bardet-Biedl Syndrome, BBS10-related ...................................................................................................................................................................................................................50 Bardet-Biedl Syndrome, BBS12-related ...................................................................................................................................................................................................................52 Bardet-Biedl Syndrome, BBS2-related .....................................................................................................................................................................................................................54 BCS1L-related Disorders ..........................................................................................................................................................................................................................................56 Beta-sarcoglycanopathy ...........................................................................................................................................................................................................................................58 Biotinidase Deficiency...............................................................................................................................................................................................................................................60 Bloom Syndrome.......................................................................................................................................................................................................................................................62 Calpainopathy ...........................................................................................................................................................................................................................................................64 Canavan Disease .......................................................................................................................................................................................................................................................66 Carbamoylphosphate Synthetase I Deficiency.........................................................................................................................................................................................................68 Carnitine Palmitoyltransferase IA Deficiency ...........................................................................................................................................................................................................70 Carnitine Palmitoyltransferase II Deficiency.............................................................................................................................................................................................................72 Cartilage-hair Hypoplasia .........................................................................................................................................................................................................................................74 Cerebrotendinous Xanthomatosis............................................................................................................................................................................................................................76 Citrullinemia Type 1 ..................................................................................................................................................................................................................................................78 CLN3-related Neuronal Ceroid Lipofuscinosis.........................................................................................................................................................................................................80