Genetic Disorders We Can Screen For

• 21-hydroxylase-deficient Congenital Adrenal Hyperplasia
• ABCC8-related Hyperinsulinism
• Achondrogenesis Type 1B
• Achromatopsia
• Alkaptonuria
• Alpha Thalassemia
• Alpha-1 Antitrypsin Deficiency
• Alpha-mannosidosis
• Alpha-sarcoglycanopathy
• Andermann Syndrome
• ARSACS
• Aspartylglycosaminuria
• Ataxia with Vitamin E Deficiency
• Ataxia-telangiectasia
• Bardet-Biedl Syndrome, BBS1-related
• Bardet-Biedl Syndrome, BBS10-related
• Beta-sarcoglycanopathy
• Biotinidase Deficiency
• Bloom Syndrome
• Canavan Disease
• Carnitine Palmitoyltransferase IA Deficiency
• Carnitine Palmitoyltransferase II Deficiency
• Cartilage-hair Hypoplasia
• Choroideremia
• Citrullinemia Type 1
• CLN3-related Neuronal Ceroid Lipofuscinosis
• CLN5-related Neuronal Ceroid Lipofuscinosis
• Cohen Syndrome
• Congenital Disorder of Glycosylation Type Ia
• Congenital Disorder of Glycosylation Type Ib
• Congenital Finnish Nephrosis
• Costeff Optic Atrophy Syndrome
• Cystic Fibrosis
• Cystinosis
• D-bifunctional Protein Deficiency
• Diastrophic Dysplasia
• Dihydropyrimidine Dehydrogenase Deficiency
• * Factor V Leiden Thrombophilia
• Factor XI Deficiency
• Familial Dysautonomia
• Familial Mediterranean Fever
• Fanconi Anemia Type C
• FKTN-related Disorders
• Fragile X Syndrome
• Galactosemia
• Gaucher Disease
• GJB2-related DFNB1 Nonsyndromic Hearing Loss and Deafness
• * Glucose-6-phosphate Dehydrogenase Deficiency
• Glutaric Acidemia Type 1
• Glycogen Storage Disease Type Ia
• Glycogen Storage Disease Type Ib
• Glycogen Storage Disease Type III
• Glycogen Storage Disease Type V
• GRACILE Syndrome
• HADHA-related Disorders
• Hb Beta Chain-related Hemoglobinopathy (Including Beta Thalassemia and Sickle Cell Disease)
• Hereditary Fructose Intolerance
• Herlitz Junctional Epidermolysis Bullosa, LAMA3-related
• Herlitz Junctional Epidermolysis Bullosa, LAMB3-related
• Herlitz Junctional Epidermolysis Bullosa, LAMC2-related
• Hexosaminidase A Deficiency (Including Tay-Sachs Disease)
• * HFE-associated Hereditary Hemochromatosis
• Homocystinuria Caused by Cystathionine Beta-synthase Deficiency
• Hypophosphatasia, Autosomal Recessive
• Inclusion Body Myopathy 2
• Isovaleric Acidemia
• Joubert Syndrome 2
• Krabbe Disease
• Lipoamide Dehydrogenase Deficiency
• Maple Syrup Urine Disease Type 1B
• Medium Chain Acyl-CoA Dehydrogenase Deficiency
• Megalencephalic Leukoencephalopathy with Subcortical Cysts
• Metachromatic Leukodystrophy
• * Mild Hyperhomocysteinemia Caused by MTHFR Deficiency
• Mucolipidosis IV
• Mucopolysaccharidosis Type I
• Muscle-eye-brain Disease
• NEB-related Nemaline Myopathy
• Niemann-Pick Disease Type C
• Niemann-Pick Disease, SMPD1-associated
• Nijmegen Breakage Syndrome
• Northern Epilepsy
• PCDH15-related Disorders
• Pendred Syndrome
• PEX1-related Zellweger Syndrome Spectrum
• Phenylalanine Hydroxylase Deficiency
• PKHD1-related Autosomal Recessive Polycystic Kidney Disease
• Polyglandular Autoimmune Syndrome Type 1
• Pompe Disease
• PPT1-related Neuronal Ceroid Lipofuscinosis
• Primary Carnitine Deficiency
• Primary Hyperoxaluria Type 1
• Primary Hyperoxaluria Type 2
• PROP1-related Combined Pituitary Hormone Deficiency
• * Prothrombin Thrombophilia
• * Pseudocholinesterase Deficiency
• Pycnodysostosis
• Recessive Multiple Epiphyseal Dysplasia
• Rhizomelic Chondrodysplasia Punctata Type 1
• Salla Disease
• Segawa Syndrome
• Short Chain Acyl-CoA Dehydrogenase Deficiency
• Sjogren-Larsson Syndrome
• Smith-Lemli-Opitz Syndrome
• Spinal Muscular Atrophy
• Steroid-resistant Nephrotic Syndrome
• Sulfate Transporter-related Osteochondrodysplasia
• TPP1-related Neuronal Ceroid Lipofuscinosis
• Tyrosinemia Type I
• Usher Syndrome Type 3
• Very Long Chain Acyl-CoA Dehydrogenase Deficiency
• Wilson Disease
• X-linked Juvenile Retinoschisis