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Lista Enfermedades Car Recombine CarrierMap Expanded v3 Panel: 314 Diseases CarrierMap screen for 316 diseases including DMD. Disease Groups High Impact Treatment Benefits X-Linked Moderate Impact These diseases have a Treatment lessens disease These diseases are passed These diseases typically do significant impact on life symptoms. Newborn screening down by female carriers. not affect life expectancy but expectancy and quality of life. may be available for timely Carriers may have symptoms. can affect quality of life. intervention. Disease Gene # Mutations Disease Group(s) 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia CYP11B1 1 •••• 17-Alpha-Hydroxylase Deficiency CYP17A1 20 •••• 17-Beta-Hydroxysteroid Dehydrogenase Deficiency HSD17B3 8 •••• 21-Hydroxylase-Deficient Classical Congenital Adrenal Hyperplasia CYP21A2 1 •••• 21-Hydroxylase-Deficient Nonclassical Congenital Adrenal Hyperplasia CYP21A2 1 •••• 3-Beta-Hydroxysteroid Dehydrogenase Deficiency HSD3B2 6 •••• 3-Methylcrotonyl-CoA Carboxylase Deficiency: MCCA Related MCCC1 2 •••• 3-Methylcrotonyl-CoA Carboxylase Deficiency: MCCB Related MCCC2 8 •••• 3-Methylglutaconic Aciduria: Type 3 OPA3 3 •••• 3-Phosphoglycerate Dehydrogenase Deficiency PHGDH 7 •••• 5-Alpha Reductase Deficiency SRD5A2 10 •••• 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency PTS 6 •••• Abetalipoproteinemia MTTP 2 •••• Acrodermatitis Enteropathica SLC39A4 7 •••• Acute Infantile Liver Failure: TRMU Related TRMU 5 •••• Acyl-CoA Oxidase I Deficiency ACOX1 5 •••• Adenosine Deaminase Deficiency ADA 22 •••• Adrenoleukodystrophy: X-Linked ABCD1 21 •••• Alkaptonuria HGD 14 •••• Alpha-1-Antitrypsin Deficiency SERPINA1 4 •••• Alpha-Mannosidosis MAN2B1 3 •••• Alpha Thalassemia HBA1, 9 HBA2 •••• Alport Syndrome: COL4A3 Related COL4A3 3 •••• Alport Syndrome: COL4A4 Related COL4A4 5 •••• Alport Syndrome: X-linked COL4A5 3 •••• Amegakaryocytic Thrombocytopenia MPL 23 •••• Andermann Syndrome SLC12A6 5 •••• Androgen Insensitivity Syndrome: Complete AR 15 •••• Antley-Bixler Syndrome POR 4 •••• Argininemia ARG1 13 •••• Disease information listed as follows: Disease Name (Number of Mutations Tested). Please visit our website for additional details about each disease. Copyright 2012 Recombine, LLC New York | New Jersey | Spain Page 1 of 9 Version: 1.0 855.OUR.GENES | www.recombine.com Recombine Disease List Recombine Disease Gene # Mutations Disease Group(s) Argininosuccinate Lyase Deficiency ASL 7 •••• Aromatase Deficiency CYP19A1 10 •••• ARSACS SACS 6 •••• Arthrogryposis, Mental Retardation, & Seizures SLC35A3 2 •••• Arts Syndrome PRPS1 2 •••• Asparagine Synthetase Deficiency ASNS 1 •••• Aspartylglycosaminuria AGA 7 •••• Ataxia-Telangiectasia ATM 20 •••• Ataxia with Vitamin E Deficiency TTPA 14 •••• Autosomal Recessive Polycystic Kidney Disease PKHD1 40 •••• Bardet-Biedl Syndrome: BBS10 Related BBS10 3 •••• Bardet-Biedl Syndrome: BBS11 Related TRIM32 1 •••• Bardet-Biedl Syndrome: BBS12 Related BBS12 5 •••• Bardet-Biedl Syndrome: BBS1 Related BBS1 3 •••• Bardet-Biedl Syndrome: BBS2 Related BBS2 8 •••• Bare Lymphocyte Syndrome: Type II CIITA 3 •••• Bartter Syndrome: Type 4A BSND 6 •••• Beta-Hexosaminidase Pseudodeficiency HEXA 2 •••• Beta-Ketothiolase Deficiency ACAT1 20 •••• Beta Thalassemia HBB 81 •••• Biotinidase Deficiency BTD 21 •••• Bloom Syndrome BLM 25 •••• Canavan Disease ASPA 8 •••• Carnitine-Acylcarnitine Translocase Deficiency SLC25A20 7 •••• Carnitine Palmitoyltransferase IA Deficiency CPT1A 10 •••• Carnitine Palmitoyltransferase II Deficiency CPT2 20 •••• Carpenter Syndrome RAB23 2 •••• Cartilage-Hair Hypoplasia RMRP 2 •••• Cerebrotendinous Xanthomatosis CYP27A1 14 •••• Charcot-Marie-Tooth Disease with Deafness: X-Linked: GJB1 Related GJB1 22 •••• Charcot-Marie-Tooth Disease with Deafness: X-Linked: PRPS1 Related PRPS1 2 •••• Chediak-Higashi Syndrome LYST 4 •••• Cholesteryl Ester Storage Disease LIPA 4 •••• Choreoacanthocytosis VPS13A 1 •••• Choroideremia CHM 1 •••• Chronic Granulomatous Disease: CYBA Related CYBA 12 •••• Chronic Granulomatous Disease: X-Linked CYBB 14 •••• Citrin Deficiency SLC25A13 8 •••• Citrullinemia: Type I ASS1 11 •••• Classical Galactosemia GALT 18 •••• Disease information listed as follows: Disease Name (Number of Mutations Tested). Please visit our website for additional details about each disease. Copyright 2012 Recombine, LLC New York | New Jersey | Spain Page 2 of 9 Version: 1.0 855.OUR.GENES | www.recombine.com Recombine Disease List Recombine Disease Gene # Mutations Disease Group(s) Cockayne Syndrome: Type A ERCC8 3 •••• Cockayne Syndrome: Type B ERCC6 7 •••• Cohen Syndrome VPS13B 9 •••• Combined Pituitary Hormone Deficiency: PROP1 Related PROP1 11 •••• Congenital Disorder of Glycosylation: Type 1A: PMM2 Related PMM2 5 •••• Congenital Disorder of Glycosylation: Type 1B: MPI Related MPI 1 •••• Congenital Disorder of Glycosylation: Type 1C: ALG6 Related ALG6 4 •••• Congenital Ichthyosis: ABCA12 Related ABCA12 8 •••• Congenital Insensitivity to Pain with Anhidrosis NTRK1 12 •••• Congenital Lipoid Adrenal Hyperplasia STAR 12 •••• Congenital Myasthenic Syndrome: CHRNE Related CHRNE 13 •••• Congenital Myasthenic Syndrome: DOK7 Related DOK7 6 •••• Congenital Myasthenic Syndrome: RAPSN Related RAPSN 11 •••• Congenital Neutropenia: Recessive HAX1 6 •••• Copper Transport Disorders ATP7A 10 •••• Corneal Dystrophy and Perceptive Deafness SLC4A11 8 •••• Corticosterone Methyloxidase Deficiency CYP11B2 3 •••• Crigler-Najjar Syndrome UGT1A1 11 •••• Cystic Fibrosis CFTR 150 •••• Cystinosis CTNS 14 •••• Cystinuria: Non-Type I SLC7A9 15 •••• Cystinuria: Type I SLC3A1 10 •••• D-Bifunctional Protein Deficiency HSD17B4 6 •••• Diabetes: Recessive Permanent Neonatal ABCC8 2 •••• DMD-Related Muscular Dystrophies DMD 1 •••• Du Pan Syndrome GDF5 4 •••• Dyskeratosis Congenita: RTEL1 Related RTEL1 5 •••• Dystrophic Epidermolysis Bullosa: Recessive COL7A1 11 •••• Ehlers-Danlos Syndrome: Type VIIC ADAMTS2 2 •••• Ellis-van Creveld Syndrome: EVC2 Related EVC, 3 EVC2 •••• Ellis-van Creveld Syndrome: EVC Related EVC 10 •••• Emery-Dreifuss Myopathy: X-Linked EMD 3 •••• Enhanced S-Cone NR2E3 5 •••• Ethylmalonic Aciduria ETHE1 4 •••• Fabry's Disease GLA 22 •••• Factor IX Deficiency F9 7 •••• Factor VIII Deficiency F8 33 •••• Familial Chloride Diarrhea SLC26A3 6 •••• Familial Dysautonomia IKBKAP 4 •••• Disease information listed as follows: Disease Name (Number of Mutations Tested). Please visit our website for additional details about each disease. Copyright 2012 Recombine, LLC New York | New Jersey | Spain Page 3 of 9 Version: 1.0 855.OUR.GENES | www.recombine.com Recombine Disease List Recombine Disease Gene # Mutations Disease Group(s) Familial Hyperinsulinism: Type 1: ABCC8 Related ABCC8 11 •••• Familial Hyperinsulinism: Type 2: KCNJ11 Related KCNJ11 6 •••• Familial Mediterranean Fever MEFV 12 •••• Fanconi Anemia: Type A FANCA 10 •••• Fanconi Anemia: Type C FANCC 8 •••• Fanconi Anemia: Type G FANCG 5 •••• Fanconi Anemia: Type J BRIP1 1 •••• Fragile X Syndrome FMR1 1 •••• Fumarase Deficiency FH 1 •••• Galactokinase Deficiency GALK1 7 •••• Gaucher Disease GBA 6 •••• Gitelman Syndrome SLC12A3 11 •••• Globoid Cell Leukodystrophy GALC 10 •••• Glucose-6-Phosphate Dehydrogenase Deficiency G6PD 7 •••• Glutaric Acidemia: Type I GCDH 8 •••• Glutaric Acidemia: Type IIA ETFA 5 •••• Glutaric Acidemia: Type IIB ETFB 2 •••• Glutaric Acidemia: Type IIC ETFDH 8 •••• Glycine Encephalopathy: AMT Related AMT 6 •••• Glycine Encephalopathy: GLDC Related GLDC 5 •••• Glycogen Storage Disease: Type IA G6PC 13 •••• Glycogen Storage Disease: Type IB SLC37A4 5 •••• Glycogen Storage Disease: Type II GAA 13 •••• Glycogen Storage Disease: Type III AGL 14 •••• Glycogen Storage Disease: Type IV GBE1 3 •••• Glycogen Storage Disease: Type V PYGM 10 •••• Glycogen Storage Disease: Type VII PFKM 4 •••• GM1-Gangliosidoses GLB1 17 •••• GRACILE Syndrome BCS1L 12 •••• Guanidinoacetate Methyltransferase Deficiency GAMT 4 •••• Hemochromatosis: Type 2A: HFE2 Related HFE2 1 •••• Hemochromatosis: Type 3: TFR2 Related TFR2 4 •••• Hemoglobinopathy: Hb C HBB 1 •••• Hemoglobinopathy: Hb D HBB 1 •••• Hemoglobinopathy: Hb E HBB 1 •••• Hemoglobinopathy: Hb O HBB 1 •••• Hereditary Fructose Intolerance ALDOB 10 •••• Hereditary Spastic Paraplegia: TECPR2 Related TECPR2 1 •••• Herlitz Junctional Epidermolysis Bullosa: LAMA3 Related LAMA3 1 •••• Herlitz Junctional Epidermolysis Bullosa: LAMB3 Related LAMB3 6 •••• Disease information listed as follows: Disease Name (Number of Mutations Tested). Please visit our website for additional details about each disease. Copyright 2012 Recombine, LLC New York | New Jersey | Spain Page 4 of 9 Version: 1.0 855.OUR.GENES | www.recombine.com Recombine Disease List Recombine Disease Gene # Mutations Disease Group(s) Herlitz Junctional Epidermolysis Bullosa: LAMC2 Related LAMC2 1 •••• Hermansky-Pudlak Syndrome: Type 1 HPS1 1 •••• Hermansky-Pudlak Syndrome: Type 3 HPS3 4 •••• Hermansky-Pudlak Syndrome: Type 4 HPS4 7 •••• HMG-CoA Lyase Deficiency HMGCL 7 •••• Holocarboxylase Synthetase Deficiency HLCS 7 •••• Homocystinuria Caused by CBS Deficiency CBS 8 •••• Hunter Syndrome IDS 7 •••• Hurler Syndrome IDUA 8 •••• Hypohidrotic Ectodermal Dysplasia: X-Linked EDA 5 •••• Hypophosphatasia ALPL 5 •••• Inclusion Body Myopathy: Type 2 GNE 3 •••• Infantile Cerebral and Cerebellar Atrophy MED17 1 •••• Isolated Microphthalmia: VSX2 Related VSX2 4 •••• Isovaleric Acidemia IVD 1 •••• Joubert Syndrome TMEM216 2 •••• Juvenile Retinoschisis: X-Linked RS1 15 •••• Lamellar Ichthyosis: Type 1 TGM1 1 •••• Laryngoonychocutaneous Syndrome LAMA3 1 •••• Leber Congenital
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