InheriGen Plus Pan-Ethnic Carrier Screen Disease List InheriGen 17a-hydroxylase/17,20-lyase Deficiency Dihydrolipoamide Dehydrogenase Deficiency 3-Hydroxy-3-Methylglutaryl CoA lyase deficiency Dihydropyrimidine dehydrogenase deficiency 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency Ethylmalonic Encephalopathy Abetalipoproteinemia Factor XI Deficiency (Hemophilia C) Achromatopsia, CNGB3-associated Familial Dysautonomia Adenosine Deaminase Deficiency Familial Hypercholesterolemia, LDLRAP1-associated Agenesis of the Corpus Callosum with Peripheral Neuropathy Familial Hypercholesterolemia, LDLR-associated (Andermann Syndrome) Familial Hyperinsulinism Antley-Bixler Syndrome Familial Mediterranean Fever Argininosuccinic Aciduria Familial Neurohypophyseal Diabetes Insipidus (FNDI), Autosomal Aspartylglycosaminuria Recessive Ataxia Neuropathy Spectrum (ANS) Fanconi Anemia Group C Ataxia with Vitamin E Deficiency Fanconi Anemia Group G Ataxia-Telangiectasia Fragile X Syndrome Autoimmune Polyglandular Syndrome, Type 1 Galactosemia Autosomal Recessive Polycystic Kidney Disease Gaucher Disease Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Glutaric Acidemia, Type I (ARSACS) Glutaric Acidemia, Type IIA Bardet-Biedl Syndrome, BBS10-associated Glutaric Acidemia, Type IIC Bardet-Biedl syndrome, BBS12-associated Glycogen Storage Disease, Type Ia Bardet-Biedl Syndrome, BBS1-associated Glycogen Storage Disease, Type Ib Bernard-Soulier syndrome (BSS), Type A1 Glycogen Storage Disease, Type II (Pompe Disease) Bernard-Soulier syndrome (BSS), Type C Glycogen Storage Disease, Type III Beta-thalassemia Glycogen Storage Disease, Type V (McArdle Disease) Bilateral Frontoparietal Polymicrogyria GRACILE Syndrome Bloom Syndrome Hermansky-Pudlak syndrome Canavan Disease Holocarboxylase Synthetase Deficiency (Multiple Carboxylase Carnitine Palmitoyltransferase Deficiency, Type 1A Deficiency) Carnitine Palmitoyltransferase Deficiency, Type 2 Homocystinuria (CBS Deficiency) Carpenter syndrome Homocystinuria, cblE type Cerebrotendinous xanthomatosis Hurler Syndrome (mucopolysaccharidosis type I) Charcot-Marie-Tooth Disease, Type 4D Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome Choroideremia Hypophosphatasia Citrin Deficiency Inclusion body myopathy 2 Cohen Syndrome Joubert syndrome 2 Congenital Amegakaryocytic Thrombocytopenia (CAMT) Junctional Epidermolysis Bullosa, Herlitz, LAMA3-associated Congenital Disorder of Glycosylation, Type Ia Junctional Epidermolysis Bullosa, Herlitz, LAMB3-associated Congenital Disorder of Glycosylation, Type Ib Junctional Epidermolysis Bullosa, Herlitz, LAMC2-associated Congenital Finnish Nephrosis Krabbe Disease Congenital Myasthenic Syndrome, CHRNE-associated Lamellar Ichthyosis, Type 1 Congenital Myasthenic Syndrome, RAPSN-associated Leber Congenital Amaurosis, CEP290-associated CRB1-associated retinal dystrophies Leber congenital Amaurosis, RDH12-associated Crigler-Najjar syndrome Leigh Syndrome, French-Canadian Type Cystic Fibrosis Leukoencephalopathy with Vanishing White Matter (VWM) Cystinosis GenPath is a business unit of BioReference Laboratories, Inc. 90989 2012 245709 BR 90989 Disease List.indd 1 12/13/12 1:47 PM InheriGen Plus Pan-Ethnic Carrier Screen Disease List InheriGen Limb-Girdle Muscular Dystrophy, Type 2A Pycnodysostosis Limb-Girdle Muscular Dystrophy, Type 2C Pyridoxine-Dependent Epilepsy Limb-Girdle Muscular Dystrophy, Type 2D Pyruvate Carboxylase Deficiency Limb-Girdle Muscular Dystrophy, Type 2E Retinal dystrophies, RLBP1-associated Lipoprotein Lipase Deficiency Retinitis Pigmentosa, EYS-associated Long-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase (LCHAD) Rhizomelic Chondrodysplasia Punctata, Type 1 Deficiency Salla Disease Lysinuric Protein Intolerance Sandhoff Disease Maple Syrup Urine Disease, Type 1A Sanfilippo, Type A Maple Syrup Urine Disease, Type 1B Sanfilippo, Type B Meckel-Gruber Syndrome Sanfilippo, Type C Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency Segawa Syndrome Megalencephalic Leukoencephalopathy with Subcortical Cysts Severe Combined Immunodeficiency, Athabaskan-type (SCIDA) Metachromatic Leukodystrophy Short/Branched Chain Acyl-CoA Dehydrogenase (SBCAD) Methylmalonic Acidemia, MMAA-associated Deficiency Methylmalonic Acidemia, MUT-associated Sialidosis, Type 2 Methylmalonic Aciduria and Homocystinuria, Cobalamin C (cblC) Sjoegren-Larsson syndrome Type Smith-Lemli-Opitz Syndrome Mucolipidosis, Type IV Spinal Muscular Atrophy (SMA) Navajo Neurohepatopathy Stargardt Disease Nemaline Myopathy, NEB-associated Stuve-Wiedemann syndrome (Schwartz-Jampel Syndrome Type 2) Nephrotic Syndrome, Steroid-Resistant Type 2 Sulfate Transporter-Related Osteochondrodysplasias Neuronal Ceroid Lipofuscinosis, CLN5-associated Tay-Sachs Disease Neuronal Ceroid Lipofuscinosis, CLN6-associated Triple-A syndrome (Allgrove syndrome; Achalasia-Addisonianism- Neuronal Ceroid Lipofuscinosis, CLN8-associated Alacrima) Neuronal Ceroid Lipofuscinosis, PPT1-associated Tyrosinemia Neuronal Ceroid Lipofuscinosis, TPP1-associated Usher Syndrome, Type IB Niemann-Pick Disease, Type A/B Usher Syndrome, Type IC Niemann-Pick Disease, Type C Usher Syndrome, Type ID Nijmegen Breakage Syndrome Usher Syndrome, Type IF Oculocutaneous Albinism, Type 1 Usher Syndrome, Type II Oculocutaneous Albinism, Type 4 Usher Syndrome, Type III Odonto-onycho-dermal dysplasia/Schopf-Schulz-Passarge Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency Syndrome Vitamin D-dependent Rickets, Type I Pendred Syndrome Walker-Warburg Syndrome Phenylketonuria (PKU) Werner Syndrome Primary Ciliary Dyskinesia, DNAH5-associated Wilson Disease Primary Ciliary Dyskinesia, DNAI1-associated X-Linked Juvenile Retinoschisis Primary Congenital Glaucoma X-Linked Severe Combined Immunodeficiency Primary Hyperoxaluria, Type 1 Zellweger Syndrome Spectrum Primary Hyperoxaluria, Type 2 Progressive Pseudorheumatoid Dysplasia Prolidase Deficiency Propionic Acidemia, PCCA-associated Propionic Acidemia, PCCB-associated Pseudoxanthoma Elasticum GenPath is a business unit of BioReference Laboratories, Inc. 90989 2012 245709 BR 90989 Disease List.indd 2 12/13/12 1:47 PM.