CARRIER SCREENING PANEL

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1 1 / 6 1. WHAT IS THE CARRIER? The carrier screening panel is a genetic test that simultaneously analyses mutations in 298 genes which cause recessive inherited pathologies. Diseases with a recessive inheritance pattern, like cystic fibrosis, are those in which the affected subject inherits two mutations, one from each healthy carrier parent. The theoretical risk for these couples is 25%. 2. WHY TAKING A CARRIER SCREENING? The purpose of this test is to know if a person is a healthy carrier of gene mutations related to recessive genetic diseases. The knowledge of someone having a carrier status is extremely valuable to determine the specific reproductive risk and to program suitable medical action aimed at avoiding such risk. 3. WHO IS THIS TEST FOR? a General population: couples without a personal or familial genetic disease background who, in a preconceptional context, wish to know their risk of conceiving a child affected by a specific recessive inherited disease. b Consanguineous couples, who have an increased risk of recessive disease occurrence in their offspring. c People of ethnic backgrounds in which some recessive diseases are more prevalent. d Couples that will undergo Assisted Reproduction treatment, as a complement to other diagnostic tests. e In Assisted Reproduction Units the test can be used for sperm/egg donors, for a better selection and risk reduction of recessive disease transmission. CYP17A1 17,20-lyase deficiency MCCC1 3-methylcrotonyl-CoA carboxylase 1 deficiency MCCC2 3-methylcrotonyl-CoA carboxylase 2 deficiency OPA3 3-methylglutaconic aciduria, type lll MTTP Abetalipoproteinemia SLC26A2 Achondrogenesis, type Ib CNGB3 Achromatopsia SLC39A4 Acrodermatitis enteropathica GDF5 Acromesomelic dysplasia ACADM ACADS ACADVL HSD3B2 CYP11B1 Acyl-coa dehydrogenase, medium-chain, deficiency of Acyl-CoA dehydrogenase, short-chain, deficiency of Acyl-CoA dehydrogenase, very long-chain, deficiency of Adrenal hyperplasia, congenital, due to 3-betahydroxysteroid dehydrogenase 2 deficiency Adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency CYP21A2 Adrenal hyperplasia, congenital / hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency ABCD1 Adrenoleukodystrophy SLC12A6 Agenesis of the corpus callosum with peripheral neuropathy TYR Albinism, oculocutaneous, type IA TYR Albinism, oculocutaneous, type IB SLC45A2 Albinism, oculocutaneous, type lv TYR Albinism/waardenburg syndrome, digenic CYP11B1 Aldosteronism, glucocorticoid-remediable HGD Alkaptonuria SERPINA1 Alpha-1-antitrypsin deficiency ACAT1 Alpha-methylacetoacetic aciduria COL4A3 Alport syndrome, recessive COL4A4 Alport syndrome, recessive COL4A5 Alport syndrome MPL Amegakaryocytic thrombocytopenia, congenital LAMB3 Amelogenesis imperfecta, type Ia AR Androgen insensitivity syndrome , FGFR2 Antley-Bixler syndrome POR Antley-Bixler syndrome ARG1 Argininemia ASL Argininosuccinic aciduria CYP19A1 Aromatase deficiency SLC35A3 Arthrogryposis, mental retardation, and seizures PRPS1 Arts syndrome AGA Aspartylglucosaminuria TTPA Ataxia with isolated deficiency of vitamin E Continue behind

2 2 / 6 ATM Ataxia-telangiectasia SLC26A2 Atelosteogenesis, type II / De la Chapelle dysplasia AIRE Autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia BBS1 Bardet-Biedl syndrome, BBS2 Bardet-Biedl syndrome, TRIM32 Bardet-Biedl syndrome BBS12 Bardet-Biedl syndrome CEP290 Bardet-Biedl syndrome BBS10 Bardet-Biedl syndrome, MKS1 Bardet-Biedl syndrome, CIITA Bare lymphocyte syndrome, type ll, complementation group A RFX5 Bare lymphocyte syndrome, type II RFXAP Bare lymphocyte syndrome, type ll BTD Biotinidase deficiency BCS1L Bjornstad syndrome BLM Bloom syndrome RLBP1 Bothnia retinal dystrophy GDF5 Brachydactyly , , F5 Budd-Chiari syndrome ASPA Canavan disease SGCD Cardiomyopathy, dilated, 1L FKTN Cardiomyopathy, dilated, 1X DMD Cardiomyopathy, dilated, 3B SLC22A5 Carnitine deficiency, systemic primary CPT2 Carnitine palmitoyltransferase II deficiency , , RAB23 Carpenter syndrome SLC6A8 Cerebral creatine deficiency syndrome GAMT Cerebral creatine deficiency syndrome CYP27A1 Cerebrotendinous xanthomatosis PPT1 Ceroid lipofuscinosis, neuronal TPP1 Ceroid lipofuscinosis, neuronal CLN3 Ceroid lipofuscinosis, neuronal CLN5 Ceroid lipofuscinosis, neuronal CLN6 Ceroid lipofuscinosis, neuronal MFSD8 Ceroid lipofuscinosis, neuronal CLN8 Ceroid lipofuscinosis, neuronal, , CLN6 Ceroid lipofuscinosis type Kufs PRPS1 Charcot-Marie-Tooth disease GJB1 Charcot-Marie-Tooth disease, X-linked ABCB11 Cholestasis, progressive familial ABCB11 Cholestasis, benign recurrent intrahepatic, GDF5 Chondrodysplasia, Grebe type VPS13A Choreoacanthocytosis CHM Choroideremia ASS1 Citrullinemia VPS13B Cohen syndrome GUCY2D Cone-rod dystrophy PROM1 Cone-rod dystrophy PMM2 Congenital disorder of glycosylation, type Ia MPI Congenital disorder of glycosylation, type Ib ALG6 Congenital disorder of glycosylation, type Ic SLC4A11 Corneal endothelial dystrophy , , FGFR2 Craniosynostosis, syndromic, dominant , , , , , , UGT1A1 Crigler-Najjar syndrome, types l, ll , CTH Cystathioninuria CFTR Cystic fibrosis CTNS Cystinosis, nephropathic , CTNS Cystinosis, non-nephropathic SLC7A9 Cystinuria SLC3A1 Cystinuria HSD17B4 D-bifunctional protein deficiency CDH23 Deafness USH1C Deafness 18A PCDH15 Deafness GJB2 Deafness, recessive 1a MYO7A Deafness, recessive MYO15A Deafness, recessive GJB2 Deafness, dominant 3a SLC26A4 Deafness, recessive MYO7A Deafness, dominant PRPS1 Deafness, X-linked GCK Diabetes permanent neonatal INS Diabetes, insulin-dependent, GLIS3 Diabetes, neonatal, with congenital hypothyroidism GCK Diabetes, noninsulin-dependent, late onset ABCC8 Diabetes, noninsulin-dependent ABCC8 Diabetes, permanent neonatal KCNJ11 Diabetes, permanent neonatal SLC26A3 Diarrhea 1, secretory chloride, congenital SLC26A2 Diastrophic dysplasia Continued on page 3

3 3 / 6 DLD Dihydrolipoamide dehydrogenase deficiency DPYD Dihydropyrimidine dehydrogenase deficiency POR Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency GDF5 Du Pan syndrome ABCC2 Dubin-Johnson syndrome F2 Dys/hypoprothrombinemia IKBKAP Dysautonomia, familial RTEL1 Dyskeratosis congenita EDA Ectodermal dysplasia 1, hypohidrotic ADAMTS2 Ehlers-Danlos syndrome, type VllC EVC2 Ellis-van Creveld syndrome EVC Ellis-van Creveld syndrome EMD Emery-Dreifuss muscular dystrophy ETHE1 Encephalopathy, ethylmalonic NR2E3 Enhanced s-cone syndrome COL7A1 Epidermolysis bullosa dystrophica , , MMP1 Epidermolysis bullosa dystrophica, modifier of COL7A1 Epidermolysis bullosa pretibial COL7A1 Epidermolysis bullosa pruriginosa COL7A1 Epidermolysis bullosa transient of the newborn LAMA3 Epidermolysis bullosa, generalized atrophic benign LAMA3 Epidermolysis bullosa, junctional, Herlitz type LAMC2 Epidermolysis bullosa, junctional, Herlitz type LAMB3 Epidermolysis bullosa, junctional, Herlitz type LAMB3 LAMC2 Epidermolysis bullosa, junctional, non-herlitz type Epidermolysis bullosa, junctional, non-herlitz type SLC26A2 Epiphyseal dysplasia, multiple, CHRNG Escobar syndrome GLA Fabry disease F5 Factor V deficiency F11 Factor Xl deficiency MEFV Familial mediterranean fever, recessive MEFV Familial mediterranean fever, dominant FANCA Fanconi anemia, complementation group A FANCC Fanconi anemia, complementation group C FANCG Fanconi anemia, complementation group G BRIP1 Fanconi anemia, complementation group J G6PD Favism FMR1 Fragile X mental retardation syndrome FMR1 Fragile X tremor/ataxia syndrome ALDOB Fructose intolerance FH Fumarase deficiency GALK1 Galactokinase deficiency with cataracts GALE Galactose epimerase deficiency GALT Galactosemia GBA Gaucher disease, perinatal lethal types, I, II, III, IIIC , , , , SLC12A3 Gitelman syndrome GCDH Glutaric acidemia I ETFA Glutaric acidemia lla ETFB Glutaric acidemia llb ETFDH Glutaric acidemia llc GNMT Glycine N-methyltransferase deficiency G6PC Glycogen storage disease Ia SLC37A4 Glycogen storage disease Ib SLC37A4 Glycogen storage disease Ic GAA Glycogen storage disease ll AGL Glycogen storage disease IIIa, IIIb GBE1 Glycogen storage disease lv PFKM Glycogen storage disease VII GLB1 GM1-gangliosidosis, types I, II, III , , GM2A GM2-gangliosidosis, AB variant PRPS1 Gout/ phosphoribosylpyrophosphate synthetase superactivity BCS1L GRACILE syndrome CYBB Granulomatous disease, chronic PEX1 Heimler syndrome PEX6 Heimler syndrome HFE Hemochromatosis HFE2 Hemochromatosis, type 2A TFR2 Hemochromatosis, type HBA2 Hemoglobin H disease HBA1 Hemoglobin H disease G6PD Hemolytic anemia due to g6pd deficiency F8 Hemophilia A F9 Hemophilia B CPT1A Hepatic carnitine palmitoyltransferase deficiency, type IA HPS1 Hermansky-Pudlak syndrome HPS3 Hermansky-Pudlak syndrome HAL Histidinemia HLCS Holocarboxylase synthetase deficiency CBS MTHFR Homocystinuria / hyperhomocysteinemic thrombosis Homocystinuria due to deficiency of methylenetetrahydrofolate reductase HMGCL Hydroxymethylglutaryl-coa lyase deficiency Continue behind

4 4 / 6 MVK Hyper IgD syndrome UGT1A1 Hyperbilirubinemia, transient familial neonatal AMT Hyperglycinemia encephalopathy GLDC Hyperglycinemia encephalopathy LIAS Hyperglycinemia, lactic acidosis, and seizures ABCC8 Hyperinsulinemic hypoglycemia, familial, KCNJ11 Hyperinsulinemic hypoglycemia, familial, GCK Hyperinsulinemic hypoglycemia, familial, LPL Hyperlipidemia, familial combined AHCY SLC25A15 Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency Hyperornithinemia-hyperammonemiahomocitrullinuria syndrome AGXT Hyperoxaluria, primary, type I GRHPR Hyperoxaluria, primary, type II HOGA1 Hyperoxaluria, primary, type III PTS Hyperphenylalaninemia INS Hyperproinsulinemia ALDH4A1 Hyperprolinemia type II CYP11B2 CYP11B2 Hypoaldosteronism, congenital, due to cmo I deficiency Hypoaldosteronism, congenital, due to cmo II deficiency ABCC8 Hypoglycemia, infantile ALPL Hypophosphatasia , , AR Hypospadias PAX8 Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia TSHR Hypothyroidism, congenital, nongoitrous, TSHB Hypothyroidism, congenital, resistant to TSH TGM1 Ichthyosis, congenital, CYBB Immunodeficiency 34, mycobacteriosis SLC17A5 Infantile sialic acid storage disease IVD Isovaleric acidemia TMEM216 Joubert syndrome MKS1 Joubert syndrome CEP290 Joubert syndrome ARL13B Joubert syndrome GJB2 Keratitis-ichthyosis-deafness, dominant , GJB2 Keratoderma, palmoplantar, with deafness GALC Krabe disease FGFR2 LADD syndrome LAMA3 Laryngoonychocutaneous syndrome GUCY2D Leber congenital amaurosis LCA5 Leber congenital amaurosis RDH12 Leber congenital amaurosis LRPPRC Leigh syndrome, french canadian type BCS1L Leigh syndrome LHCGR Leydig cell hypoplasia with hypergonadotropic hypogonadism / pseudohermaphroditism / LH resistance (female) DYSF Limb-girdle muscular dystrophy, type 2B LMF1 Lipase deficiency STAR Lipoid congenital adrenal hyperplasia LPL Lipoprotein lipase deficiency SLC7A7 Lysinuric protein intolerance CNGB3 Macular degeneration, juvenile PROM1 Macular dystrophy MFSD8 Macular dystrophy with central cone involvement MAN2B1 Mannosidosis, Alpha B, types I, II BCKDHA Maple syrup urine disease, type Ia BCKDHB Maple syrup urine disease, type Ib DBT Maple syrup urine disease, type II PYGM McArdle disease TMEM216 Meckel syndrome MKS1 Meckel syndrome CEP290 Meckel syndrome HEPACAM HEPACAM MLC1 Megalencephalic leukoencephalopathy with subcortical cysts 2A Megalencephalic leukoencephalopathy with subcortical cysts 2B with/without mental retardation Megalencephalic leukoencephalopathy with subcortical cysts ATP7A Menkes disease ARSA Metachromatic leukodystrophy MAT1A Methionine adenosyltransferase I/III deficiency MMACHC Methylmalonic aciduria and homocystinuria, cblc type MMAB Methylmalonic aciduria, cblb type MUT Methylmalonic aciduria, mut(0) type MMAA Methylmalonic aciduria, vitamin B12-responsive MMADHC Methylmalonic aciduria/homocystinuria, type cbld, variants 1, MCEE Methylmalonyl-CoA epimerase deficiency MVK Mevalonic aciduria RFXANK MHC class II deficiency, complementation group B POLG Mitochondrial ataxia rec BCS1L Mitochondrial complex lll deficiency, nuclear type POLG Mitochondrial DNA depletion syndrome 4A POLG Mitochondrial DNA depletion syndrome 4B MPV17 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) DYSF Miyoshi muscular dystrophy IL2RG Moderate combined immunodeficiency Continued on page 5

5 5 / 6 INS MODY type KCNJ11 MODY type GCK MODY-ll GNPTAB Mucolipidosis alpha/beta ll GNPTAB Mucolipidosis alpha/beta lli MCOLN1 Mucolipidosis IV IDUA Mucopolysaccharidosis Ih/s IDUA Mucopolysaccharidosis Ih IDUA Mucopolysaccharidosis Is IDS Mucopolysaccharidosis, type ll SGSH Mucopolysaccharidosis, type llla (Sanfilippo A) NAGLU Mucopolysaccharidosis, type lllb (sanfilippo B) HGSNAT Mucopolysaccharidosis, type lllc (Sanfilippo C) GNS Mucopolysaccharidosis, type IIID GLB1 Mucopolysaccharidosis type IVB (Morquio) CHRND Multiple pterygium syndrome, lethal type CHRNA1 Multiple pterygium syndrome, lethal type CHRNG Multiple pterygium syndrome, lethal type SUMF1 Multiple sulfatase deficiency GDF5 Multiple synostoses syndrome DMD Muscular dystrophy, Becker type DMD Muscular dystrophy, Duchenne type CAPN3 Muscular dystrophy, limb-girdle, type 2A SGCG Muscular dystrophy, limb-girdle, type 2C SGCA Muscular dystrophy, limb-girdle, type 2D SGCB Muscular dystrophy, limb-girdle, type 2E SGCD Muscular dystrophy, limb-girdle, type 2F TRIM32 Muscular dystrophy, limb-girdle, type 2H POMT1 Muscular dystrophy-dystroglycanopathy, type A POMGNT1 Muscular dystrophy-dystroglycanopathy type A3, B3, C , , FKTN Muscular dystrophy-dystroglycanopathy, type A FKRP Muscular dystrophy-dystroglycanopathy, type A POMT1 Muscular dystrophy-dystroglycanopathy, type B FKTN Muscular dystrophy-dystroglycanopathy, type B FKRP Muscular dystrophy-dystroglycanopathy, type B POMT1 Muscular dystrophy-dystroglycanopathy, type C FKTN Muscular dystrophy-dystroglycanopathy, type C FKRP Muscular dystrophy-dystroglycanopathy, type C CHRNA1 Myasthenic syndrome, congenital, 1A, slow-channel CHRNA1 Myasthenic syndrome, congenital, 1B, fast-channel CHRND Myasthenic syndrome, congenital, 3A, slow-channel CHRND Myasthenic syndrome, congenital, 3B, fast-channel CHRND Myasthenic syndrome, congenital, 3C, acetylcholine receptor deficiency AMPD1 Myopathy due to myoadenylate deaminase deficiency ACTA1 Myopathy, congenital, with fiber-type disproportion MTM1 Myotubular myopathy NEB Nemaline myopathy ACTA1 Nemaline myopathy 3, congenital INS Neonatal diabetes NPHS1 Nephrotic syndrome, type NPHS2 Nephrotic syndrome, type PHGDH Neu-laxova syndrome NME1 Neuroblastoma HAX1 Neutropenia, severe congenital, VPS45 Neutropenia, severe congenital, type SMPD1 Niemann-pick disease, type A SMPD1 Niemann-pick disease, type B NPC1 Niemann-Pick disease, types C1, D NPC2 Niemann-pick disease, type C NBN Nijmegen syndrome GNE Nonaka myopathy ATP7A Occipital horn syndrome DCLRE1C Omenn syndrome OPA3 Optic atrophy 3 with cataract OTC Ornithine transcarbamylase deficiency PROP1 Panhypopituitarism SLC26A4 Pendred syndrome ACOX1 Peroxisomal acyl-coa oxidase deficiency PEX1 Peroxisome biogenesis disorder 1A (Zellweger) PEX1 Peroxisome biogenesis disorder 1B (NALD/IRD) PEX6 Peroxisome biogenesis disorder 4A (Zellweger) PEX6 Peroxisome biogenesis disorder 4B PEX2 Peroxisome biogenesis disorder 5A (Zellweger) PEX2 Peroxisome biogenesis disorder 5B PEX10 Peroxisome biogenesis disorder 6A (Zellweger) PEX10 Peroxisome biogenesis disorder 6B PEX7 Peroxisome biogenesis disorder 9B HSD17B4 Perrault syndrome AMH Persistent Mullerian duct syndrome, type I AMHR2 Persistent Mullerian duct syndrome, type II PAH Phenylketonuria PHGDH Phosphoglycerate dehydrogenase deficiency PKHD1 Polycystic kidney and hepatic disease GBE1 Polyglucosan body neuropathy, adult form SEPSECS Pontocerebellar hypoplasia, type 2D MVK Porokeratosis 3, dominant BCHE Postanesthesia apnea - FMR1 Premature ovarian failure POLG Progressive external ophthalmoplegia dom Continue behind

6 6 / 6 POLG Progressive external ophthalmoplegia rec. 1, PCCA Propionic acidemia PCCB Propionic acidemia HSD17B3 Pseudohermaphroditism, male, with gynecomastia SRD5A2 Pseudovaginal perineoscrotal hypospadias CTSK Pycnodysostosis PDHA1 Pyruvate dehydrogenase E1-alpha deficiency PDHB Pyruvate dehydrogenase E1-beta deficiency NR2E3 Retinitis pigmentosa PROM1 Retinitis pigmentosa DHDDS Retinitis Pigmentosa CLRN1 Retinitis pigmentosa HGSNAT Retinitis pigmentosa BBS2 Retinitis pigmentosa POMGNT1 Retinitis Pigmentosa RLBP1 Retinitis punctata albescens RS1 Retinoschisis PEX7 Rhizomelic chondrodysplasia punctata, type SLC17A5 Salla disease HEXB Sandhoff disease, infantile, juvenile, and adult forms TH Segawa syndrome CEP290 Senior-Loken syndrome BSND ADA Sensorineural deafness with renal dysfunction (Bartter syndrome type 4a) Severe combined immunodeficiency, due to adenosine deaminase deficiency / partial deficiency IL2RG Severe combined immunodeficiency DCLRE1C Severe combined immunodeficiency Athabaskan-type GNE Sialuria HBB Sickle cell anemia ALDH3A2 Sjogren-Larsson syndrome SLC45A2 Skin/hair/eye pigmentation, variation in, DHCR7 Smith-Lemli-Opitz syndrome SACS Spastic ataxia, Charlevoix-Saguenay type AR Spinal and bulbar muscular atrophy of Kennedy SMN1 Spinal muscular atrophy 1, 2, 3, , , , F9 Thrombophilia due to factor IX defect F2 Thrombophilia SLC5A5 Thyroid dyshormonogenesis TPO Thyroid dyshormonogenesis 2A TG Thyroid dyshormonogenesis IYD Thyroid dyshormonogenesis DUOXA2 Thyroid dyshormonogenesis DUOX2 Thyroid dyshormonogenesis EDA Tooth agenesis, selective HADHA Trifunctional protein deficiency FAH Tyrosinemia, type I MYO7A Usher syndrome, type IB USH1C Usher syndrome, type IC PCDH15 Usher syndrome, type ID/F, digenic CDH23 Usher syndrome, type ID/F, digenic PCDH15 Usher syndrome, type IF USH2A Usher syndrome, type IIa CLRN1 Usher syndrome, type IIIa CFTR Vas deferens, congenital bilateral aplasia of VWF Von Willebrand disease, type VWF Von Willebrand disease, types 2A, 2B, 2M, 2N VWF Von Willebrand disease, type WRN Werner syndrome EVC2 Weyers acrofacial dysostosis EVC Weyers acrofacial dysostosis ATP7B Wilson disease ATP7A Spinal muscular atrophy, distal TPP1 Spinocerebellar ataxia PROM1 Stargardt disease LIFR Stuve-Wiedemann syndrome/schwartz-jampel type 2 syndrome HEXA Tay-Sachs disease F5 Thrombophilia due to protein C resistance