LIST OF DISEASES ANALYZED BY
11-Beta-Hydroxylase-Deficient Congenital Bardet-Biedl Syndrome, BBS10-Related Congenital Disorder of Glycosylation, Fragile X Syndrome (FMR1)* X-linked Adrenal Hyperplasia (CYP11B1) (BBS10) Type la (PMM2) Galactokinase Deficiency (GALK1) 21-Hydroxylase-Deficient Congenital Bardet-Biedl Syndrome, BBS12-Related Congenital Disorder of Glycosylation, Galactosemia (GALT) Adrenal Hyperplasia (CYP21A2)* (BBS12) Type lb (MPI) Gamma-Sarcoglycanopathy (SGCG) 6-Pyruvoyl-Tetrahydropterin Synthase Bardet-Biedl Syndrome, BBS2-Related Congenital Disorder of Glycosylation, Deficiency (PTS) (BBS2) Type lc (ALG6) Gaucher Disease (GBA)* ABCC8-Related Hyperinsulinism Beta-Sarcoglycanopathy (including Congenital Finnish Nephrosis (NPHS1) GJB2-Related DFNB1 Nonsyndromic (ABCC8) Limb-Girdle Muscular Dystrophy, Hearing Loss and Deafness (including Costeff Optic Atrophy Syndrome (OPA3) Type 2E) (SGCB) two GJB6 deletions) (GJB2) Adenosine Deaminase Deficiency (ADA) Cystic Fibrosis (CFTR) Biotinidase Deficiency (BTD) GLB1-Related Disorders (GLB1) Adrenoleukodystrophy: X-Linked Cystinosis (CTNS) (ABCD1) X-linked Bloom Syndrome (BLM) GLDC-Related Glycine D-Bifunctional Protein Deficiency Encephalopathy (GLDC) Alpha Thalassemia (HBA1/HBA2)* Calpainopathy (CAPN3) (HSD17B4) Glutaric Acidemia, Type 1 (GCDH) Canavan Disease (ASPA) Delta-Sarcoglycanopathy (SGCD) Alpha-Mannosidosis (MAN2B1) Glycogen Storage Disease, Type Ia Carbamoylphosphate Synthetase I Dysferlinopathy (DYSF) (G6PC) Alpha-Sarcoglycanopathy (including Deficiency (CPS1) Limb-Girdle Muscular Dystrophy, Dystrophinopathies (including Duchenne Glycogen Storage Disease, Type Ib Carnitine Palmitoyltransferase IA Type 2D) (SGCA) / Becker Muscular Dystrophy) (DMD) (SLC37A4) Deficiency (CPT1A) X-linked Alport Syndrome, X-Linked (COL4A5) Glycogen Storage Disease, Type III Carnitine Palmitoyltransferase II X-linked ERCC6-Related Disorders (ERCC6) (AGL) Deficiency (CPT2) Alstrom Syndrome (ALMS1) ERCC8-Related Disorders (ERCC8) GNPTAB-Related Disorders (GNPTAB) Cartilage-Hair Hypoplasia (RMRP) AMT-Related Glycine Encephalopathy EVC-Related Ellis-Van Creveld GRACILE Syndrome (BCS1L) Cerebrotendinous Xanthomatosis (AMT) Syndrome (EVC) (CYP27A1) HADHA-Related Disorders (including Andermann Syndrome (SLC12A6) EVC2-Related Ellis-Van Creveld Long Chain 3-Hydroxyacyl-CoA Citrullinemia, Type 1 (ASS1) Syndrome (EVC2) Dehydrogenase Deficiency) (HADHA) Argininemia (ARG1) CLN3-Related Neuronal Ceroid Fabry Disease (GLA) X-linked Hb Beta Chain-Related Argininosuccinic Aciduria (ASL) Lipofuscinosis (CLN3) Hemoglobinopathy (including Beta Familial Dysautonomia (IKBKAP) ARSACS (SACS) CLN5-Related Neuronal Ceroid Thalassemia and Sickle Cell Disease) Lipofuscinosis (CLN5) (HBB) Aspartylglycosaminuria (AGA) Familial Mediterranean Fever (MEFV) CLN6-Neuronal Ceroid Lipofuscinosis, Hereditary Fructose Intolerance Ataxia with Vitamin E Deficiency (TTPA) Type 6 (CLN6) Fanconi Anemia Complementation, (ALDOB) Ataxia-Telangiectasia (ATM) Group A (FANCA) Cohen Syndrome (VPS13B) Herlitz Junctional Epidermolysis ATP7A-Related Disorders (ATP7A) Fanconi Anemia, Type C (FANCC) Bullosa, LAMA3-Related (LAMA3) COL4A3-Related Alport Syndrome X-linked (COL4A3) Herlitz Junctional Epidermolysis Autosomal Recessive Osteopetrosis, FKRP-Related Disorders (FKRP) Bullosa, LAMB3-Related (LAMB3) COL4A4-Related Alport Syndrome Type 1 (TCIRG1) (COL4A4) FKTN-Related Disorders (including Herlitz Junctional Epidermolysis Bardet-Biedl Syndrome, BBS1-Related Walker-Warburg Syndrome) (FKTN) Bullosa, LAMC2-Related (LAMC2) (BBS1)
Phone +971-4-3962227 Email [email protected] www.fml-dubai.com
Hexosaminidase A Deficiency (including Methylmalonic Acidemia, cblA Type PCDH15-Related Disorders (including Short Chain Acyl-CoA Tay-Sachs Disease) (HEXA) (MMAA) Usher Syndrome, Type 1F) (PCDH15) Dehydrogenase Deficiency (ACADS) HMG-CoA Lyase Deficiency (HMGCL) Methylmalonic Acidemia, cblB Type Pendred Syndrome (SLC26A4) Sjogren-Larsson Syndrome (MMAB) (ALDH3A2) Holocarboxylase Synthetase Deficiency Peroxisome Biogenesis Disorder, Type 3 (HLCS) Methylmalonic Aciduria and (PEX12) Smith-Lemli-Opitz Syndrome (DHCR7) Homocystinuria, cblC Type (MMACHC) Homocystinuria caused by Cystathionine Peroxisome Biogenesis Disorder, Type 4 Spastic Paraplegia, Type 15 (ZFYVE26) Beta-Synthase Deficiency (CBS) MKS1-Related Disorders (MKS1) (PEX6) Spinal Muscular Atrophy (SMN1)* Hydrolethalus Syndrome (HYLS1) Mucolipidosis III Gamma (GNPTG) Peroxisome Biogenesis Disorder, Type 5 Spondylothoracic Dysostosis (MESP2) (PEX2) Hypophosphatasia, Autosomal Mucolipidosis IV (MCOLN1) Steroid-Resistant Nephrotic Syndrome Recessive (ALPL) Peroxisome Biogenesis Disorder, Type 6 Mucopolysaccharidosis, Type I (NPHS2) (PEX10) Inclusion Body Myopathy 2 (GNE) (including Hurler Syndrome) (IDUA) Sulfate Transporter-Related PEX1-Related Zellweger Syndrome Isovaleric Acidemia (IVD) Mucopolysaccharidosis, Type II (IDS) Osteochondrodysplasia (SLC26A2) Spectrum (PEX1) X-linked Joubert Syndrome 2 (TMEM216) TGM1-Related Autosomal Recessive Phenylalanine Hydroxylase Deficiency Mucopolysaccharidosis, Type IIIA Congenital Ichthyosis (TGM1) KCNJ11-Related Familial Hyperinsulinism (PAH) (SGSH) (KCNJ11) TPP1-Related Neuronal Ceroid PKHD1-Related Autosomal Recessive Mucopolysaccharidosis, Type IIIB Lipofuscinosis (TPP1) Krabbe Disease (GALC) Polycystic Kidney Disease (PKHD1) (NAGLU) Tyrosinemia, Type I (FAH) LAMA2-Related Muscular Dystrophy Polyglandular Autoimmune Syndrome, Mucopolysaccharidosis, Type IIIC (LAMA2) Type 1 (AIRE) Tyrosinemia, Type II (TAT) (HGSNAT) Leigh Syndrome, French-Canadian Pompe Disease (GAA) USH1C-Related Disorders (USH1C) Muscle-Eye-Brain Disease (POMGNT1) Type (LRPPRC) PPT1-Related Neuronal Ceroid USH2A-Related Disorders (USH2A) MUT-Related Methylmalonic Acidemia Lipoamide Dehydrogenase Deficiency Lipofuscinosis (PPT1) (MUT) Usher Syndrome, Type 3 (CLRN1) (DLD) Primary Carnitine Deficiency (SLC22A5) MYO7A-Related Disorders (MYO7A) Very Long Chain Acyl-CoA Lipoid Congenital Adrenal Hyperplasia Primary Hyperoxaluria, Type 1 (AGXT) Dehydrogenase Deficiency (ACADVL) (STAR) NEB-Related Nemaline Myopathy (NEB) Primary Hyperoxaluria, Type 2 (GRHPR) Wilson Disease (ATP7B) Lysosomal Acid Lipase Deficiency (LIPA) Niemann-Pick Disease, Type C (NPC1) Primary Hyperoxaluria, Type 3 (HOGA1) X-Linked Congenital Adrenal Maple Syrup Urine Disease, Type Ia Niemann-Pick Disease, Type C2 (NPC2) Hypoplasia (NR0B1) X-linked (BCKDHA) PROP1-Related Combined Pituitary Niemann-Pick Disease, Hormone Deficiency (PROP1) X-Linked Juvenile Retinoschisis (RS1) Maple Syrup Urine Disease, Type IB SMPD1-Associated (SMPD1) X-linked (BCKDHB) Pycnodysostosis (CTSK) Nijmegen Breakage Syndrome (NBN) X-Linked Myotubular Myopathy (MTM1) Maple Syrup Urine Disease, Type II (DBT) Pyruvate Carboxylase Deficiency (PC) Northen Epilepsy (CLN8) X-linked Medium Chain Acyl-CoA Rhizomelic Chondrodysplasia Ornithine Transcarbamylase Deficiency X-Linked Severe Combined Dehydrogenase Deficiency (ACADM) Punctata, Type 1 (PEX7) (OTC) X-linked Immunodeficiency (IL2RG) X-linked Megalencephalic Leukoencephalopathy RTEL1-Related Disorders (RTEL1) PCCA-Related Propionic Acidemia Xeroderma Pigmentosum, Group A with Subcortical Cysts (MLC1) (PCCA) Salla Disease (SLC17A5) (XPA) Metachromatic Leukodystrophy (ARSA) PCCB-Related Propionic Acidemia Sandhoff Disease (HEXB) Xeroderma Pigmentosum, Group C (PCCB) (XPC) Segawa Syndrome (TH)
Indicates testing recommended by ACOG (American College of Obstetricians and Gynecologists) Indicates testing recommended by ACMG (American College of Medical Genetics and Genomics) X-linked Indicates X-linked disorders * Use of differentiating specialized technology (technically challenging genes) Diseases included on the donor panel
Phone +971-4-3962227 Email [email protected] www.fml-dubai.com