COUNSYL FORESIGHT™ CARRIER SCREEN DISEASE LIST The Counsyl Foresight Carrier Screen focuses on serious, clinically-actionable, and prevalent conditions to ensure you are providing meaningful information to your patients. 11-Beta-Hydroxylase- Bardet-Biedl Syndrome, Congenital Disorder of Galactokinase Deficiency Deficient Congenital Adrenal BBS1-Related (BBS1) Glycosylation, Type Ic (ALG6) (GALK1) Hyperplasia (CYP11B1) Bardet-Biedl Syndrome, Congenital Finnish Nephrosis Galactosemia (GALT ) 21-Hydroxylase-Deficient BBS10-Related (BBS10) (NPHS1) Gamma-Sarcoglycanopathy Congenital Adrenal Bardet-Biedl Syndrome, Costeff Optic Atrophy (SGCG) Hyperplasia (CYP21A2)* BBS12-Related (BBS12) Syndrome (OPA3) Gaucher Disease (GBA)* 6-Pyruvoyl-Tetrahydropterin Bardet-Biedl Syndrome, Cystic Fibrosis GJB2-Related DFNB1 Synthase Deficiency (PTS) BBS2-Related (BBS2) (CFTR) Nonsyndromic Hearing Loss ABCC8-Related Beta-Sarcoglycanopathy and Deafness (including two Cystinosis (CTNS) Hyperinsulinism (ABCC8) (including Limb-Girdle GJB6 deletions) (GJB2) Muscular Dystrophy, Type 2E) D-Bifunctional Protein Adenosine Deaminase GLB1-Related Disorders (SGCB) Deficiency (HSD17B4) Deficiency (ADA) (GLB1) Biotinidase Deficiency (BTD) Delta-Sarcoglycanopathy Adrenoleukodystrophy: GLDC-Related Glycine (SGCD) X-Linked (ABCD1) Bloom Syndrome (BLM) Encephalopathy (GLDC) Alpha Thalassemia (HBA1/ Calpainopathy (CAPN3) Dysferlinopathy (DYSF) Glutaric Acidemia, Type 1 HBA2)* Canavan Disease Dystrophinopathies (including (GCDH) (ASPA) Alpha-Mannosidosis Duchenne/Becker Muscular Glycogen Storage Disease, (MAN2B1) Carbamoylphosphate Dystrophy)(DMD) Type Ia (G6PC) Synthetase I Deficiency Alpha-Sarcoglycanopathy ERCC6-Related Disorders Glycogen Storage Disease, (CPS1) (including Limb-Girdle (ERCC6) Type Ib (SLC37A4) Muscular Dystrophy, Type 2D) Carnitine Palmitoyltransferase ERCC8-Related Disorders Glycogen Storage Disease, (SGCA) IA Deficiency CPT1A( ) (ERCC8) Type III (AGL) Carnitine Palmitoyltransferase Alport Syndrome, X-Linked EVC-Related Ellis-Van Creveld GNPTAB-Related Disorders II Deficiency CPT2( ) (COL4A5) Syndrome (EVC) (GNPTAB) Cartilage-Hair Hypoplasia Alstrom Syndrome (ALMS1) EVC2-Related Ellis-Van GRACILE Syndrome (BCS1L) (RMRP) AMT-Related Glycine Creveld Syndrome (EVC2) HADHA-Related Disorders Cerebrotendinous (including Long Chain Encephalopathy (AMT) Fabry Disease (GLA) Xanthomatosis (CYP27A1) 3-Hydroxyacyl-CoA Andermann Syndrome Citrullinemia, Type 1 (ASS1) Familial Dysautonomia Dehydrogenase Deficiency) (SLC12A6) (IKBKAP) (HADHA) CLN3-Related Neuronal Argininemia (ARG1) Ceroid Lipofuscinosis (CLN3) Familial Mediterranean Fever Hb Beta Chain-Related Hemoglobinopathy (including Argininosuccinic Aciduria CLN5-Related Neuronal (MEFV) Beta Thalassemia and Sickle (ASL) Ceroid Lipofuscinosis (CLN5) Fanconi Anemia Cell Disease)(HBB) ARSACS (SACS) CLN6-Neuronal Ceroid Complementation, Group A Hereditary Fructose Lipofuscinosis, Type 6 (CLN6) (FANCA) Aspartylglycosaminuria (AGA) Intolerance (ALDOB) Cohen Syndrome (VPS13B) Fanconi Anemia, Type C Ataxia with Vitamin E (FANCC) Herlitz Junctional Deficiency TTPA( ) COL4A3-Related Alport Epidermolysis Bullosa, Syndrome (COL4A3) FKRP-Related Disorders Ataxia-Telangiectasia (ATM) LAMA3-Related (LAMA3) (FKRP) COL4A4-Related Alport Herlitz Junctional ATP7A-Related Disorders Syndrome (COL4A4) FKTN-Related Disorders Epidermolysis Bullosa, (ATP7A) Congenital Disorder of (including Walker-Warburg LAMB3-Related (LAMB3) Autosomal Recessive Glycosylation, Type Ia (PMM2) Syndrome) (FKTN) Herlitz Junctional Osteopetrosis, Type 1 Congenital Disorder of Fragile X Syndrome (FMR1)* Epidermolysis Bullosa, (TCIRG1) Glycosylation, Type Ib (MPI) LAMC2-related (LAMC2) Hexosaminidase A Deficiency Methylmalonic Aciduria and Peroxisome Biogenesis Spondylothoracic Dysostosis (including Tay-Sachs Disease) Homocystinuria, cblC Type Disorder, Type 4 (PEX6) (MESP2) (HEXA) (MMACHC) Peroxisome Biogenesis Steroid-Resistant Nephrotic HMG-CoA Lyase Deficiency MKS1-Related Disorders Disorder, Type 5 (PEX2) Syndrome (NPHS2) (HMGCL) (MKS1) Peroxisome Biogenesis Sulfate Transporter-Related Holocarboxylase Synthetase Mucolipidosis III Gamma Disorder, Type 6 (PEX10) Osteochondrodysplasia Deficiency (HLCS) (GNPTG) PEX1-Related Zellweger (SLC26A2) Homocystinuria caused by Mucolipidosis IV (MCOLN1) Syndrome Spectrum (PEX1) TGM1-Related Autosomal Cystathionine Beta-Synthase Phenylalanine Hydroxylase Recessive Congenital Deficiency CBS( ) Mucopolysaccharidosis, Type Deficiency (PAH) Ichthyosis (TGM1) Hydrolethalus Syndrome I (including Hurler Syndrome) PKHD1-Related Autosomal TPP1-Related Neuronal (HYLS1) (IDUA) Recessive Polycystic Kidney Ceroid Lipofuscinosis (TPP1) Hypophosphatasia, Mucopolysaccharidosis, Disease (PKHD1) Tyrosinemia, Type I (FAH) Autosomal Recessive (ALPL) Type II (IDS) Polyglandular Autoimmune Tyrosinemia, Type II (TAT ) Syndrome, Type 1 (AIRE) Inclusion Body Myopathy 2 Mucopolysaccharidosis, USH1C-Related Disorders (GNE) Type IIIA (SGSH) Pompe Disease (GAA) (USH1C) Isovaleric Acidemia (IVD) Mucopolysaccharidosis, PPT1-Related Neuronal USH2A-Related Disorders Joubert Syndrome 2 Type IIIB (NAGLU) Ceroid Lipofuscinosis (PPT1) (USH2A) (TMEM216) Mucopolysaccharidosis, Primary Carnitine Deficiency Usher Syndrome, Type 3 KCNJ11-Related Familial Type IIIC (HGSNAT) (SLC22A5) (CLRN1) Hyperinsulinism (KC NJ11) Muscle-Eye-Brain Disease Primary Hyperoxaluria, Very Long Chain Acyl-CoA Krabbe Disease (GALC) (POMGNT1) Type 1 (AGXT) Dehydrogenase Deficiency (ACADVL) LAMA2-Related Muscular MUT-Related Methylmalonic Primary Hyperoxaluria, Dystrophy (LAMA2) Acidemia (MUT) Type 2 (GRHPR) Wilson Disease (ATP7B) Leigh Syndrome, French- MYO7A-Related Disorders Primary Hyperoxaluria, X-Linked Congenital Adrenal Canadian Type (LRPPRC) (MYO7A) Type 3 (HOGA1) Hypoplasia (NR0B1) Lipoamide Dehydrogenase NEB-Related Nemaline PROP1-Related Combined X-Linked Juvenile Deficiency (DLD) Myopathy (NEB) Pituitary Hormone Deficiency Retinoschisis (RS1) (PROP1) Lipoid Congenital Adrenal Niemann-Pick Disease, X-Linked Myotubular Hyperplasia (STAR) Type C (NPC1) Pycnodysostosis (CTSK) Myopathy (MTM1) Pyruvate Carboxylase Lysosomal Acid Lipase Niemann-Pick Disease, X-Linked Severe Combined Deficiency (PC) Deficiency (LIPA) Type C2 (NPC2) Immunodeficiency IL2RG( ) Rhizomelic Chondrodysplasia Maple Syrup Urine Disease, Niemann-Pick Disease, Punctata, Type 1 (PEX7) Type Ia (BCKDHA) SMPD1-Associated Xeroderma Pigmentosum, (SMPD1) RTEL1-Related Disorders Group A (XPA) Maple Syrup Urine Disease, (RTEL1) Type IB (BCKDHB) Nijmegen Breakage Xeroderma Pigmentosum, Syndrome (NBN) Salla Disease (SLC17A5) Group C (XPC) Maple Syrup Urine Disease, Type II (DBT) Northern Epilepsy (CLN8) Sandhoff Disease (HEXB) Medium Chain Acyl-CoA Ornithine Transcarbamylase Segawa Syndrome (TH) Deficiency OTC( ) Dehydrogenase Deficiency Short Chain Acyl-CoA (ACADM) PCCA-Related Propionic Dehydrogenase Deficiency Megalencephalic Acidemia (PCCA) (ACADS) Indicates testing recommended by ACOG Leukoencephalopathy with PCCB-Related Propionic Sjogren-Larsson Syndrome Subcortical Cysts (MLC1) Acidemia (PCCB) (ALDH3A2) Metachromatic PCDH15-Related Disorders Smith-Lemli-Opitz Syndrome Indicates testing recommended by ACMG Leukodystrophy (ARSA) (including Usher Syndrome, (DHCR7) Methylmalonic Acidemia, Type 1F) (PCDH15) Spastic Paraplegia, Type 15 cblA Type (MMAA) Pendred Syndrome (SLC26A4) (ZFYVE26) Indicates X-linked disorders Methylmalonic Acidemia, Peroxisome Biogenesis Spinal Muscular Atrophy cblB Type (MMAB) Disorder, Type 3 (PEX12) (SMN1)* *Analysed using custom assay For information on this test or to request a referral form, please call customer care (9:00am – 5:00pm) 1800 822 999 or email us at [email protected] www.genomicdiagnostics.com.au Phone: 1800 822 999 | Email: [email protected] | URL: genomicdiagnostics.com.au Specialist Diagnostic Services, ABN 84 007 190 043 APA No. 000042, trading as Laverty Pathology. IS-MKT-119. V1 July 2019.