Full details of all of the information listed here can be found at www.genetests.org.

New GeneReviews (June-July 2008) I Lecithin Cholesterol Acyltransferase Deficiency I Celiac Disease I RP10-Related Retinitis Pigmentosa I MED12-Related Disorders I Severe Combined Immune Deficiency, Autosomal I Infantile Neuroaxonal Dystrophy Recessive, T Cell-Negative, B Cell –Positive I Hereditary Folate Malabsorption Germany I LMNA-Related Dilated Cardiomyopathy I ACTC1-Related Dilated Cardiomyopathy I 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis I ACTC1-Related Familial Hypertrophic Cardiomyopathy I Hereditary Paraganglioma-Pheochromocytoma Syndromes I ADAMTS10-Related Weill-Marchesani Syndrome I CNGA1-Related Retinitis Pigmentosa I Focal Dermal Hypoplasia I CNGB1-Related Retinitis Pigmentosa Newly Available Laboratory Tests in the I COL11A1/COL11A2/COL2A1/COL9A1-Related United States Stickler Syndrome I Alzheimer Disease Type 4 I DFNA 8/12-/DFNB 3-/DFNB 6-/DFNB 7/11- I with Vitamin E Deficiency /DFNB16-/DFNB18- Nonsyndromic Hearing Loss I EIF2B1/EIF2B2/EIF2B3/EIF2B4-Related and Deafness Childhood Ataxia with Central Nervous System I Distal Hereditary Motor Neuronopathy Type VIIB Hypomyelination/Vanishing Whit I FBN1-Related Weill-Marchesani Syndrome I Episodic Ataxia Type 1 I LGMD1A I Fatal Infantile Lactic Acidosis I Limb-Girdle Muscular Dystrophy Type 2H, Type 2J I Focal Segmental Glomerulosclerosis 2 I GABRG2-Related Generalized Epilepsy with and MERTK-Related Retinitis Pigmentosa Febrile Plus I Oguchi Disease I ICHTHYIN-Related Autosomal Recessive I PDE6A-/PDE6B-/PRPF31-Related Retinitis Congenital Ichthyosis Pigmentosa I Juvenile Myoclonic Epilepsy I Papillary Renal Carcinoma I Mental Retardation, X-Linked, with Short Stature, I RGR-Related Retinitis Pigmentosa Small Testes, Muscle Wasting, and Tremor I Retinal Dystrophy, Early-Onset, Severe I Neurohypophyseal Diabetes Insipidus I Spastic Paraplegia 15 I PRPF 3/PRPF 8/PRPF31/RP10-Related Retinitis I Type 11 Pigmentosa I TARDBP-Related Amyotrophic Lateral Sclerosis I SEPN1-Related Congenital Fiber-Type I TTN-Related Dilated Cardiomyopathy Disproportion I TTN-Related Familial Hypertrophic I Spastic Paraplegia 8 Cardiomyopathy I TPM3-Related Congenital Fiber-Type Disproportion I Telethoninopathy I USH2A-Related Retinitis Pigmentosa Newly Available Laboratory Tests I VAPB-Related Amyotrophic Lateral Sclerosis Internationally I Vesicoureteral Reflux 2 Norway Canada I ABCA1-Associated Familial High Density I Arrhythmogenic Right Ventricular Lipoprotein Deficiency Dysplasia/Cardiomyopathy 5 I ABCA1-Related Disorders I CTSD-/ MFSD8-Related Neuronal Ceroid- I ACTC1-Related Dilated Cardiomyopathy Lipofuscinosis I APOA1-Associated Familial High Density United Kingdom Lipoprotein Deficiency I Dysalbuminemic Hyperthyroxinemia I Familial Hypercholesterolemia, Autosomal Dominant, 3 Netherlands I Hyperalphalipoproteinemia I Hyper IgE Syndrome

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