LIST OF ANALYZED BY

11-Beta-Hydroxylase-Deficient Congenital Bardet-Biedl Syndrome, BBS10-Related Congenital Disorder of Glycosylation, (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, (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 (GBA)* ABCC8-Related Hyperinsulinism Beta-Sarcoglycanopathy (including Congenital Finnish Nephrosis (NPHS1) GJB2-Related DFNB1 Nonsyndromic (ABCC8) Limb-Girdle , and Deafness (including Costeff Optic Syndrome (OPA3) Type 2E) (SGCB) two GJB6 deletions) (GJB2) Adenosine Deaminase Deficiency (ADA) (CFTR) Biotinidase Deficiency (BTD) GLB1-Related Disorders (GLB1) : X-Linked Cystinosis (CTNS) (ABCD1) X-linked Bloom Syndrome (BLM) GLDC-Related 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) , 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 , 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 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 , Type 1 (ASS1) Syndrome (EVC2) Dehydrogenase Deficiency) (HADHA) (ARG1) CLN3-Related Neuronal Ceroid (GLA) X-linked Hb Beta Chain-Related Argininosuccinic Aciduria (ASL) Lipofuscinosis (CLN3) (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 with Vitamin E Deficiency (TTPA) Type 6 (CLN6) Fanconi 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 , 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) , 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) (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 , Type I (NPHS2) (PEX10) Inclusion Body 2 (GNE) (including Hurler Syndrome) (IDUA) Sulfate Transporter-Related PEX1-Related Zellweger Syndrome (IVD) Mucopolysaccharidosis, Type II (IDS) Osteochondrodysplasia (SLC26A2) Spectrum (PEX1) X-linked 2 (TMEM216) TGM1-Related Autosomal Recessive Phenylalanine Hydroxylase Deficiency Mucopolysaccharidosis, Type IIIA Congenital (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 , 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 (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 (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 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 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