Evolve FamilyReady Carrier Screen

Transcription

1 Evolve FamilyReady Carrier Screen Accurate & Comprehensive Expanded Carrier Screen of >200 genes for the most relevant genetic disorders for all ethnicities. Achromatopsia CNGB3 X-linked Adrenoleukodystrophy ABCD1 Alkaptonuria HGD Alpha-1 Antitrypsin Deficiency SERPINA1 Alpha-Mannosidosis MAN2B1 Alpha-Thalassemia* HBA1, HBA2 Alport Syndrome COL4A3, COL4A4 Andermann Syndrome SLC12A6 Argininosuccinate Lyase Deficiency ASL Arthrogryposis, Mental retardation, and Seizures SLC35A3 Asparagine Synthetase Deficiency ASNS Aspartylglucosaminuria AGA Ataxia with Vitamin E Deficiency TTPA Ataxia-Telangiectasia ATM Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) SACS Bardet-Biedl Syndrome, Type 1 BBS1 Bardet-Biedl Syndrome, Type 2 BBS2 Bardet-Biedl Syndrome, Type 10 BBS10 Bernard Soulier Syndrome, Type B GP1BB Bernard-Soulier Syndrome, Type C GP9 Beta-Ketothiolase Deficiency ACAT1 Beta-Thalassemia*/Sickle Cell Disease* HBB Biotinidase Deficiency BTD Bloom Syndrome* BLM Canavan Disease* ASPA Carnitine Deficiency, Primary SLC22A5 Carnitine Palmitoyltransferase IA Deficiency CPT1A Carnitine Palmitoyltransferase II Deficiency CPT2 Cartilage-Hair Hypoplasia RMRP Cerebrotendinous Xanthomatosis CYP27A1 Cholesteryl Ester Storage Disease LIPA Choreoacanthocytosis VPS13A X-linked Choroideremia CHM Chronic Granulomatous Disease CYBA Ciliary Dyskinesia, Primary 1 DNAI1 Ciliary Dyskinesia, Primary 3 DNAH5 Page 1

2 Ciliary Dyskinesia, Primary 9 DNAI2 Citrullinemia, Type 1 ASS1 Cohen Syndrome VPS13B Combined Pituitary Hormone Deficiency PROP1 Congenital Adrenal Hyperplasia CYP21A2 Congenital of Glycosylation, Type Ia PMM2 Congenital Dsorder of Glycosylation, Type Ib MPI Congenital Insensitivity to Pain with Anhidrosis NTRK1 Costeff Syndrome (a.k.a. 3-Methylglutaconic Aciduria Type 3) OPA3 Cystic Fibrosis* CFTR Cystinosis CTNS D-bifunctional Protein Deficiency HSD17B4 Dihydropyrimidine Dehydrogenase Deficiency DPYD X-linked Duchenne/Becker Muscular Dystrophy DMD Dyskeratosis Congenital RTEL1 Dysprothrombinemia F2 Ehlers-Danlos Syndrome, Type VIIC ADAMTS2 Enhanced S-cone Syndrome NR2E3 ERCC6-Related s ERCC6 ERCC8-Related s ERCC8 X-linked Fabry Disease GLA Factor XI Deficiency F11 Familial Dysautonomia* IKBKAP Familial Mediterranean Fever MEFV Fanconi Anemia, Type A FANCA Fanconi Anemia, Type C* FANCC X-linked Fragile X syndrome* FMR1 Fumarase Deficiency FH Galactosemia GALT Gaucher Disease* GBA Glaucoma, Primary Congenital CYP1B1 X-linked Glucose-6-Phosphate Dehydrogenase Deficiency G6PD Glutaric Acidemia, Type I GCDH Glycogen Storage Disease Ia (von Gierke) G6PC Glycogen Storage Disease Ib (von Gierke) SLC37A4 Glycogen Storage Disease II (Pompe) GAA Glycogen Storage Disease III (Cori/Forbes) AGL Glycogen Storage Disease IV GBE1 Glycogen Storage Disease V (McArdle) PYGM Glycogen Storage Disease VII PFKM GM1 Gangliosidosis GLB1 GRACILE Syndrome BCS1L Page 2

3 Growth Hormone Deficiency, Isolated GHRHR Gyrate Atrophy of Choroid and Retina OAT Hearing Loss, Non-syndromic TMC1 Hearing Loss, Non-syndromic (a.k.a. Connexion 26) GJB2 Hearing Loss, Non-syndromic (a.k.a. Connexion 30) GJB6 Heme Oxygenase-1 Deficiency HMOX1 Hemochromatosis HFE X-linked Hemophilia B F9 Hereditary Fructose Intolerance ALDOB Herlitz Junctional Epidermolysis Bullosa, LAMA3-Related LAMA3 Herlitz Junctional Epidermolysis Bullosa, LAMB3-Related LAMB3 Herlitz Junctional Epidermolysis Bullosa, LAMC2-Related LAMC2 Hermansky-Pudlak Syndrome 3 HPS3 Homocystinuria, CBS-deficient CBS Hydatidiform Mole, Recurrent NLRP7 Hyperinsulinism ABCC8 Hyperoxaluria, Primary Type 1 AGXT Hyperoxaluria, Primary Type 2 GRHPR Hyperoxaluria, Primary Type 3 HOGA1 Hypoaldosteronism CYP11B2 Hypohidrotic Ectodermal Dysplasia EDAR Hypophosphatasia ALPL Inclusion Body Myopathy 2 GNE Isovaleric Acidemia IVD Joubert Syndrome 2 TMEM216 Krabbe Disease GALC Limb-Girdle Muscular Dystrophy, Type 2A CAPN3 Limb-Girdle Muscular Dystrophy, Type 2B DYSF Limb-Girdle Muscular Mystrophy, Type 2C SGCG Limb-Girdle Muscular Dystrophy, Type 2D (a.k.a. Alpha-Sarcoglycanopathy) SGCA Limb-Girdle Muscular Dystrophy, Type 2E (a.k.a. Beta-Sarcoglycanopathy) SGCB Liver Failure Acute Infantile TRMU Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency HADHA Maple Syrup Urine Disease, Type 1A BCKDHA Maple Syrup Urine Disease, Type 1B BCKDHB Maple Syrup Urine Disease, Type 2 DBT Maple Syrup Urine Disease Type 3 DLD Medium Chain Acyl-CoA Dehydrogenase Deficiency ACADM Megalencephalic Leukoencephalopathy with Subcortical Cysts MLC1 Megaloblastic Anemia Syndrome SLC19A2 Metachromatic Leukodystrophy ARSA Methylmalonic Acidemia and Homocystinuria, cblc-type MMACHC Page 3

4 Methylmalonic Acidemia, cb1a-type MMAA Methylmalonic Acidemia, cb1b-type MMAB Methylmalonic Acidemia, mut-type MUT Microcephaly, Postnatal Progressive, with Seizures and Brain atrophy MED17 Microphthalmia VSX2 X-linked Mitochondrial Complex 1 Deficiency NDUFAF5, NDUFS6 Mitochondrial DNA Depletion Syndrome 1 (MNGIE type) TYMP Mucolipidosis II /IIIA GNPTAB Mucolipidosis IV* MCOLN1 Mucopolysaccharidosis, Type I IDUA X-linked Mucopolysaccharidosis, Type II IDS Mucopolysaccharidosis, Type IIIA SGSH Mucopolysaccharidosis, Type IIIB NAGLU Mucopolysaccharidosis, Type IVA GALNS Mucopolysaccharidosis, Type VI ARSB Mucopolysaccharidosis, Type VII GUSB Multiple Sulfatase Deficiency SUMF1 Muscle-Eye-Brain Disease POMGNT1 Myasthenic Syndrome, Congenital RAPSN Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 Nemaline Myopathy NEB Nephrotic Syndrome, Type 1 (a.k.a. Finnish Nephrosis) NPHS1 Nephrotic Syndrome, Type 2 NPHS2 Neu-Laxova Syndrome 1 PHGDH Neuronal Ceroid Lipofuscinosis, Type 1 PPT1 Neuronal Ceroid Lipofuscinosis, Type 2 TPP1 Neuronal Ceroid Lipofuscinosis, Type 3 CLN3 Neuronal Ceroid Lipofuscinosis, Type 5 CLN5 Neuronal Ceroid Lipofuscinosis, Type 8 (a.k.a. Northern Epilepsy) CLN8 Niemann-Pick Disease, Type A* & B SMPD1 Niemann-Pick Disease, Type C1 NPC1 Niemann-Pick Disease, Type C2 NPC2 Nijmegen Breakage Syndrome NBN Oculocutaneous Albinism, Type 1 TYR Omenn syndrome RAG2 X-linked Ornithine Transcarbamylase Deficiency OTC Pantothenate Kinase-Associated Neurodegeneration PANK2 Papillon-Lefevre Syndrome CTSC Pendred Syndrome SLC26A4 Phenylalanine Hydroxylase Deficiency PAH Polycystic Kidney Disease, Autosomal Recessive PKHD1 Polyglandular Autoimmune Syndrome, Type 1 AIRE Page 4

5 Pontocerebellar Hypoplasia, Type 1A VRK1 Pontocerebellar Hypoplasia, Type 2D SEPSECS Pontocerebellar Hypoplasia, Type 2E VPS53 Pontocerebellar Hypoplasia, Type 6 RARS2 Progressive Pseudorheumatoid Dysplasia WISP3 Pseudocholinesterase Deficiency BCHE Pycnodysostosis CTSK Renal Tubular Acidosis with Deafness ATP6V1B1 Retinitis Pigmentosa CERKL, DHDDS, EYS, RPE65 X-linked Retinoschisis, Juvenile RS1 X-linked RETT Syndrome MECP2 Rhizomelic Chondrodysplasia Punctata, Type 1 PEX7 Salla Disease (a.k.a. Sialic Acid Storage Disease) SLC17A5 Sandhoff Disease HEXB Segawa Syndrome TH Short-Chain Acyl-CoA Dehydrogenase Deficiency ACADS Sjogren-Larsson Syndrome ALDH3A2 Skeletal Dysplasias, including Achondrogenesis, Type 1B SLC26A2 Smith-Lemli-Opitz Syndrome DHCR7 Spastic Paraplegia 49 TECPR2 Spinal Muscular Atrophy* SMN1 Tay-Sachs Disease* HEXA Thrombocytopenia MPL Tricho-Hepato-Enteric Syndrome TTC37 Tyrosinemia, Type I FAH Usher Syndrome, Type 1F PCDH15 Usher Syndrome, Type 2A USH2A Usher Syndrome, Type 3 CLRN1 Very Long Chain Acyl-CoA Dehydrogenase Deficiency ACADVL Walker Warburg Syndrome, Type 4 FKTN Werner Syndrome WRN Wilson disease ATP7B Woolly Hair/Hypotrichosis Syndrome LIPH Zellweger Spectrum s PEX1, PEX2, PEX6 *ACOG and/or ACMG recommended carrier screening for specific genetic conditions Page 5