Tests by disease
Allan-Herndon-Dudley syndrome Angelman syndrome Atypical Rett syndrome Atypical Rett syndrome, congenital variant Autosomal Dominant Centronuclear Myopathy Bernard-Soulier syndrome Bilateral frontoparietal polymicrogyria (BFPP) Brachydactyly, type B1 Breast Cancer Centronuclear Myopathy, Autosomal Dominant Charcot-Marie-Tooth disease (DNM2-related) Charcot-Marie-Tooth, type 2B1 (LMNA-related) CHARGE Syndrome CHILD Syndrome Chondrodysplasia punctata, X-linked dominant Chondrodysplasia punctata, X-linked recessive Conradi-Hünermann syndrome Cornelia de Lange Syndrome (CdLS) Dilated cardiomyopathy (DCM) Emery-Dreifuss muscular dystrophy (EDMD) Emery-Dreifuss muscular dystrophy, autosomal recessive (EDMD3) Familial hyperinsulinism Familial partial lipodystrophy (FLPD), Dunnigan type Gilbert Syndrome Hallervorden-Spatz Syndrome Happle syndrome Hearing Loss Hutchinson-Gilford progeria Hyperinsulinemia of infancy Infantile neuroaxonal dystrophy Infantile spasms Isolated congenital heart defects Limb Girdle muscular dystrophy (LGMD1B) Lissencephaly Mandibuloacral dysplasia (MAD) MCT8-Specific thyroid hormone cell transporter (THCT) deficiency MCT8 deficiency Menkes disease Mental retardation, X-linked Myotubular myopathy, X-linked Non-syndromic congenital heart disease Occipital Horn Syndrome Permanent neonatal diabetes PKAN Polymicrogyria, bilateral frontoparietal (BFPP) Pontocerebellar hypoplasia Prader-Willi Syndrome Primary Microcephaly Rett syndrome Roberts syndrome Robinow syndrome Rubinstein-Taybi syndrome Russell-Silver syndrome Sotos Syndrome Thyroid hormone cell transport defect Transient neonatal diabetes UPD14 West syndrome Wilson diseaseX-linked Angelman-like syndrome X-linked dominant chondrodysplasia punctata (CDPX2) X-linked recessive chondrodysplasia punctata (CDPX1) X-linked Lissencephaly X-linked Lissencephaly with Ambiguous Genitalia (XLAG)X-linked Mental Retardation X-linked Mental Retardation, Christianson type X-linked Mental Retardation with cerebellar hypoplasia X-linked Mental Retardation with high serum T3 X-linked Myotubular Myopathy
University of Chicago Genetic Services Laboratories 5841 South Maryland Avenue, Room L035/MC0077 Chicago, IL 60637