Genetics Testing List.

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A B C D E F G H I J K L M N O P R S T U V W X
  • 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY; HIBCHD
  • 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME; MEGDEL
  • ACHONDROPLASIA; ACH
  • ACHROMATOPSIA 2; ACHM2
  • ACHROMATOPSIA 3; ACHM3
  • ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM
  • ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY
  • ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN; ACADVL
  • ADADENOSINE DEAMINASE DEFICIENCY; ADA
  • ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; APRTD
  • ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
  • ADRENOLEUKODYSTROPHY; ALD
  • AGAMMAGLOBULINEMIA, X-LINKED; XLA
  • AICARDI-GOUTIERES SYNDROME 1; AGS1
  • AICARDI-GOUTIERES SYNDROME 2; AGS2
  • AICARDI-GOUTIERES SYNDROME 5; AGS5
  • ALAGILLE SYNDROME 1; ALGS1
  • ALBINISM, OCULAR, TYPE I; OA1
  • ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A
  • ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2
  • ALBINISM, OCULOCUTANEOUS, TYPE III; OCA3
  • ALLAN-HERNDON-DUDLEY SYNDROME; AHDS
  • ALOPECIA UNIVERSALIS CONGENITA; ALUNC
  • ALPHA-1-ANTITRYPSIN DEFICIENCY; A1ATD
  • ALPHA-THALASSEMIA
  • ALPORT SYNDROME, X-LINKED; ATS
  • ALPORT SYNDROME, X-LINKED; ATS
  • ALZHEIMER DISEASE 3
  • ALZHEIMER DISEASE 4
  • AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL; CAMT
  • AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED, INCLUDED
  • AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1
  • AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE; ALS4
  • ANDROGEN RECEPTOR; AR
  • ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
  • ANGELMAN SYNDROME; AS
  • ANGIOEDEMA, HEREDITARY, TYPE I; HAE1
  • ANIRIDIA; AN
  • ARGININOSUCCINIC ACIDURIA
  • ARTERIAL TORTUOSITY SYNDROME; ATS
  • ARTHROGRYPOSIS, DISTAL, TYPE 2B; DA2B
  • ARTHROGRYPOSIS, DISTAL, TYPE 2B; DA2B
  • ARTHROGRYPOSIS, DISTAL, TYPE 9; DA9
  • ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1; ARCS1
  • ATAXIA-TELANGIECTASIA; AT
  • AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1
  • BARDET-BIEDL SYNDROME 10; BBS10
  • BARDET-BIEDL SYNDROME 4; BBS4
  • BARTH SYNDROME; BTHS
  • BARTTER SYNDROME, TYPE 3; BARTS3
  • BASAL CELL NEVUS SYNDROME; BCNS (GORLIN)
  • BENIGN CHRONIC PEMPHIGUS; BCPM
  • BETA-THALASSEMIA
  • BIOTINIDASE DEFICIENCY
  • BIRT-HOGG-DUBE SYNDROME; BHD
  • BLEEDING DISORDER, PLATELET-TYPE, 16; BDPLT16
  • BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES
  • BLOOD GROUP--KELL-CELLANO SYSTEM
  • BLOOM SYNDROME; BLM
  • BRACHYDACTYLY, TYPE B1; BDB1
  • BRANCHIOOCULOFACIAL SYNDROME; BOFS
  • BREAST CANCER, FAMILIAL
  • BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BROVCA2
  • CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
  • CAMURATI-ENGELMANN DISEASE; CAEND
  • CANAVAN DISEASE
  • CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY
  • CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1
  • CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4
  • CARDIOMYOPATHY, DILATED, 1A; CMD1A
  • CARDIOMYOPATHY, DILATED, 1DD; CMD1DD
  • CARDIOMYOPATHY, DILATED, 1G; CMD1G
  • CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1
  • CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2
  • CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4
  • CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7; CMH7
  • CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP
  • CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
  • CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY; CACTD
  • CARTILAGE-HAIR HYPOPLASIA; CHH
  • CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT
  • CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE; CLN2
  • CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1
  • CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10
  • CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CMT2A2
  • CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B
  • CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E; CMT2E
  • CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A
  • CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B
  • CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C; CMTDIC
  • CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1; CMTX1
  • CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2; BRIC2
  • CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3; PFIC3
  • CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1
  • CHOROIDEREMIA; CHM
  • CILIARY DYSKINESIA, PRIMARY, 3; CILD3
  • CITRULLINEMIA, CLASSIC
  • CLEIDOCRANIAL DYSPLASIA; CCD
  • COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1
  • COENZYME Q10 DEFICIENCY, PRIMARY, 7; COQ10D7
  • COHEN SYNDROME; COH1
  • COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1; HNPCC1
  • COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2
  • COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4; HNPCC4
  • COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5; HNPCC5
  • COMBINED SAPOSIN DEFICIENCY
  • CONE-ROD DYSTROPHY 6; CORD6
  • CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG
  • CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A
  • CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L
  • CORNEAL DYSTROPHY, AVELLINO TYPE; CDA
  • CRANIOFRONTONASAL SYNDROME; CFNS
  • CRANIOSYNOSTOSIS 2; CRS2
  • CREUTZFELDT-JAKOB DISEASE; CJD
  • CROUZON SYNDROME
  • CURRARINO SYNDROME
  • CUTIS LAXA, AUTOSOMAL DOMINANT 1; ADCL1
  • CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B
  • CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB; ARCL2B
  • CYSTIC FIBROSIS; CF
  • CYSTINOSIS, NEPHROPATHIC; CTNS
  • DANON DISEASE
  • DARIER-WHITE DISEASE; DAR
  • D-BIFUNCTIONAL PROTEIN DEFICIENCY
  • DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1
  • DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III
  • DIAMOND-BLACKFAN ANEMIA 1; DBA1
  • DIAMOND-BLACKFAN ANEMIA 2; DBA2
  • DIAMOND-BLACKFAN ANEMIA 5; DBA5
  • DIAMOND-BLACKFAN ANEMIA 9; DBA9
  • DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD
  • DONNAI-BARROW SYNDROME
  • DONOHUE SYNDROME
  • DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3
  • DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2; DKCA2
  • DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 5; DKCB5
  • DYSKERATOSIS CONGENITA, X-LINKED; DKCX
  • DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT; DYT1
  • DYSTONIA 3, TORSION, X-LINKED; DYT3
  • EARLY-ONSET FAMILIAL ALZHEIMER DISEASE;
  • ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B
  • ECTODERMAL DYSPLASIA, HYPOHIDROTIC, X-LINKED; XHED
  • ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; EEC3
  • EHLERS-DANLOS SYNDROME, CLASSIC TYPE
  • EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT
  • EHLERS-DANLOS SYNDROME, TYPE VI; EDS6
  • EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE
  • EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1
  • EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT; EDMD2
  • EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT; DDEB
  • EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA; EBSPA
  • EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE; EBSDM
  • EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE; EBSDM
  • EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
  • EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
  • EPIDERMOLYTIC HYPERKERATOSIS; EHK
  • EPILEPSY, PYRIDOXINE-DEPENDENT; EPD
  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; EIEE2
  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5; EIEE5
  • EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1
  • EXOSTOSES, MULTIPLE, TYPE I
  • EXOSTOSES, MULTIPLE, TYPE II
  • FABRY DISEASE
  • FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1
  • FACTOR V DEFICIENCY
  • FACTOR VII DEFICIENCY
  • FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1
  • FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1
  • FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT
  • FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC
  • FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2
  • FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE
  • FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF
  • FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG
  • FANCONI ANEMIA, COMPLEMENTATION GROUP I; FANCI
  • FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ
  • FANCONY ANEMIA, COMPLEMENTATION GROUP A; FANCA
  • FETAL AKINESIA DEFORMATION SEQUENCE; FADS
  • FETAL AKINESIA DEFORMATION SEQUENCE; FADS
  • FRAGILE X MENTAL RETARDATION SYNDROME
  • FRASER SYNDROME
  • FRIEDREICH ATAXIA 1; FRDA
  • FRUCTOSE INTOLERANCE, HEREDITARY
  • GALACTOSEMIA
  • GALACTOSIALIDOSIS; GSL
  • GASTRIC CANCER, HEREDITARY DIFFUSE; HDGC
  • GAUCHER DISEASE, TYPE I
  • GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS; HGPPS
  • GERODERMA OSTEODYSPLASTICUM; GO
  • GERSTMANN-STRAUSSLER DISEASE; GSD
  • GLANZMANN THROMBASTHENIA; GT
  • GLAUCOMA 3, PRIMARY CONGENITAL, A; GLC3A
  • GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1
  • GLUTARIC ACIDEMIA I
  • GLYCINE ENCEPHALOPATHY; GCE
  • GLYCOGEN STORAGE DISEASE Ia; GSD1A
  • GLYCOGEN STORAGE DISEASE Ib; GSD1B
  • GLYCOGEN STORAGE DISEASE II; GSD2
  • GLYCOGEN STORAGE DISEASE III; GSD3
  • GLYCOGEN STORAGE DISEASE IXa1; GSD9A1
  • GLYCOGEN STORAGE DISEASE VI; GSD6
  • GM1-GANGLIOSIDOSIS, TYPE I
  • GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II; CDG2
  • GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CDGX
  • GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS
  • GRISCELLI SYNDROME, TYPE 2; GS2
  • HEMOCHROMATOSIS, TYPE 1; HFE1
  • HEMOGLOBIN H DISEASE; HBH
  • HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2
  • HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3
  • HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4
  • HEMOPHILIA A; HEMA
  • HEMOPHILIA B; HEMB
  • HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC
  • HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC; HMSN2C
  • HERMANSKY-PUDLAK SYNDROME 1; HPS1
  • HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1
  • HLA MATCHING GENOTYPING
  • HOLOPROSENCEPHALY 2; HPE2
  • HOLT-ORAM SYNDROME; HOS
  • HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
  • HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
  • HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE; HMAG
  • HUNTINGTON DISEASE; HD
  • HURLER SYNDROME
  • HYALINOSIS, INFANTILE SYSTEMIC
  • HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS; HSAS
  • HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, ALPHA SUBUNIT; HADHA
  • HYPERGLYCINEMIA, NONKETOTIC; NKH
  • HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT
  • HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE
  • HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1
  • HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
  • HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1
  • HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2
  • HYPOMAGNESEMIA 3, RENAL; HOMG3
  • HYPOPHOSPHATASIA, INFANTILE
  • HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT
  • ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1; ARCI1
  • ICHTHYOSIS, LAMELLAR, 2; LI2
  • ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION; ISQMR
  • IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME
  • IMMUNODEFICIENCY 25; IMD25
  • IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1
  • IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED; IPEX
  • INCONTINENTIA PIGMENTI; IP
  • ISOVALERIC ACIDEMIA; IVA
  • JOUBERT SYNDROME 1; JBTS1
  • JOUBERT SYNDROME 17; JBTS17
  • JOUBERT SYNDROME 2; JBTS2
  • JOUBERT SYNDROME 21; JBTS21
  • JOUBERT SYNDROME 23; JBTS23
  • JOUBERT SYNDROME 3; JBTS3
  • JOUBERT SYNDROME 6; JBTS6
  • KRABBE DISEASE
  • LARSEN SYNDROME; LRS
  • LEBER CONGENITAL AMAUROSIS 2; LCA2
  • LEBER CONGENITAL AMAUROSIS 4; LCA4
  • LEBER CONGENITAL AMAUROSIS 5; LCA5
  • LEBER CONGENITAL AMAUROSIS 6; LCA6
  • LEIGH SYNDROME; LS
  • LEIGH SYNDROME; LS
  • LERI-WEILL DYSCHONDROSTEOSIS; LWD
  • LESCH-NYHAN SYNDROME; LNS
  • LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD
  • LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM
  • LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM
  • LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM
  • LI-FRAUMENI SYNDROME 1; LFS1
  • LIPOID CONGENITAL ADRENAL HYPERPLASIA; LCAH
  • LISSENCEPHALY, X-LINKED, 2; LISX2
  • LOEYS-DIETZ SYNDROME 1; LDS1
  • LONG QT SYNDROME 1; LQT1
  • LONG QT SYNDROME 2; LQT2
  • LYMPHEDEMA-DISTICHIASIS SYNDROME
  • LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1
  • LYSOSOMAL ACID LIPASE DEFICIENCY
  • MACHADO-JOSEPH DISEASE; MJD
  • MAPLE SYRUP URINE DISEASE; MSUD
  • MARFAN SYNDROME; MFS
  • MECKEL SYNDROME, TYPE 1; MKS1
  • MECKEL SYNDROME, TYPE 11; MKS11
  • MECKEL SYNDROME, TYPE 4; MKS4
  • MECKEL SYNDROME, TYPE 6; MKS6
  • MECKEL SYNDROME, TYPE 8; MKS8
  • MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1; MLC1
  • MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38; MRT38
  • MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE
  • METACHROMATIC LEUKODYSTROPHY; MLD
  • METAPHYSEAL ANADYSPLASIA 1, INCLUDED; MANDP1, INCLUDED
  • METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS
  • METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
  • METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY
  • METHYLMALONIC ACIDURIA, cblB TYPE
  • MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I; MOPD1
  • MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE; MCPH2
  • MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE; MCPH3
  • MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5
  • MICROPHTHALMIA, ISOLATED 2; MCOP2
  • MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT
  • MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1
  • MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
  • MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY
  • MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A
  • MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1
  • MUCOLIPIDOSIS II ALPHA/BETA
  • MUCOPOLYSACCHARIDOSIS TYPE VI; MPS6
  • MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2
  • MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A
  • MUCOPOLYSACCHARIDOSIS, TYPE IVA; MPS4A
  • MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD
  • MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1
  • MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A
  • MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV; MEN4
  • MUSCULAR DYSTROPHY, BECKER TYPE; BMD
  • MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A
  • MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
  • MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S; LGMD2S
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5
  • MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL; CMS4A
  • MYOCLONIC EPILEPSY OF LAFORA
  • MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE
  • MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET; EMARDD
  • MYOPATHY, CENTRONUCLEAR, X-LINKED; CNMX
  • MYOPATHY, MYOFIBRILLAR, 1; MFM1
  • MYOTONIA CONGENITA, AUTOSOMAL DOMINANT
  • MYOTONIC DYSTROPHY 1; DM1
  • MYOTONIC DYSTROPHY 2; DM2
  • N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY; NAGSD
  • NAIL-PATELLA SYNDROME; NPS
  • NEMALINE MYOPATHY 2; NEM2
  • NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS
  • NEPHROTIC SYNDROME, TYPE 1; NPHS1
  • NEURAMINIDASE DEFICIENCY
  • NEUROFIBROMATOSIS, TYPE I; NF1
  • NEUROFIBROMATOSIS, TYPE II; NF2
  • NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I; HSAN1
  • NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
  • NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI; HSAN6
  • NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT; SCN1
  • NIEMANN-PICK DISEASE, TYPE A
  • NIEMANN-PICK DISEASE, TYPE C1; NPC1
  • NIEMANN-PICK DISEASE, TYPE C2; NPC2
  • NOONAN SYNDROME 1; NS1
  • NOONAN SYNDROME 3; NS3
  • NOONAN SYNDROME 4; NS4
  • NORRIE DISEASE; ND
  • OMENN SYNDROME
  • OPTIC ATROPHY 1; OPA1
  • ORNITHINE TRANSCARBAMYLASE DEFICIENCY
  • OSTEOGENESIS IMPERFECTA, TYPE I; OI1
  • OSTEOGENESIS IMPERFECTA, TYPE II; OI2
  • OSTEOGENESIS IMPERFECTA, TYPE IX; OI9
  • OSTEOPETROSIS, AUTOSOMAL DOMINANT 2; OPTA2
  • OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1
  • PACHYONYCHIA CONGENITA 3; PC3
  • PANCREATITIS, HEREDITARY; PCTT
  • PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC
  • PELIZAEUS-MERZBACHER DISEASE; PMD
  • PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT
  • PERIVENTRICULAR NODULAR HETEROTOPIA 1; PVNH1
  • PERLMAN SYNDROME; PRLMNS
  • PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY
  • PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A
  • PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11A
  • PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER); PBD1A
  • PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER); PBD2A
  • PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3A
  • PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER); PBD5A
  • PEUTZ-JEGHERS SYNDROME; PJS
  • PFEIFFER SYNDROME
  • PHENYLKETONURIA; PKU
  • PIERSON SYNDROME
  • POLYCYSTIC KIDNEY DISEASE 1; PKD1
  • POLYCYSTIC KIDNEY DISEASE 2; PKD2
  • POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD
  • POLYMICROGYRIA, BILATERAL FRONTOPARIETAL; BFPP
  • PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A
  • POPLITEAL PTERYGIUM SYNDROME; PPS
  • PORPHYRIA, CONGENITAL ERYTHROPOIETIC
  • PROPIONIC ACIDEMIA
  • PROPIONIC ACIDEMIA
  • PROTHROMBIN DEFICIENCY, CONGENITAL
  • PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A
  • PSEUDOHYPOPARATHYROIDISM, TYPE IB; PHP1B
  • PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH
  • PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY; PNPOD
  • PYRUVATE KINASE DEFICIENCY OF RED CELLS
  • RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER; RALD
  • RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR
  • RESTRICTIVE DERMOPATHY, LETHAL
  • RETINITIS PIGMENTOSA 2; RP2
  • RETINITIS PIGMENTOSA 3; RP3
  • RETINITIS PIGMENTOSA 4; RP4
  • RETINOBLASTOMA; RB1
  • RETINOSCHISIS 1, X-LINKED, JUVENILE; RS1
  • RETT SYNDROME; RTT
  • RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1
  • RHESUS BLOOD GROUP, CcEe ANTIGENS; RHCE
  • RHESUS BLOOD GROUP, D ANTIGEN; RHD
  • SAETHRE-CHOTZEN SYNDROME; SCS
  • SANDHOFF DISEASE
  • SENGERS SYNDROME
  • SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE
  • SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1
  • SHWACHMAN-DIAMOND SYNDROME; SDS
  • SICKLE CELL ANEMIA
  • SMITH-LEMLI-OPITZ SYNDROME; SLOS
  • SONIC HEDGEHOG; SHH
  • SOTOS SYNDROME 1; SOTOS1
  • SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A
  • SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4
  • SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE; SPG49
  • SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1
  • SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1; DSMA1
  • SPINAL MUSCULAR ATROPHY, TYPE I; SMA1
  • SPINOCEREBELLAR ATAXIA 1; SCA1
  • SPINOCEREBELLAR ATAXIA 2; SCA2
  • SPINOCEREBELLAR ATAXIA 6; SCA6
  • SPINOCEREBELLAR ATAXIA 7; SCA7
  • SPINOCEREBELLAR ATAXIA 8; SCA8
  • STARGARDT DISEASE 1; STGD1
  • STICKLER SYNDROME, TYPE I; STL1
  • STICKLER SYNDROME, TYPE II; STL2
  • SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; SSADHD
  • SULFOCYSTEINURIA
  • SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3; SMDP3
  • SYMPHALANGISM, PROXIMAL; SYM1
  • TAY-SACHS DISEASE; TSD
  • TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER; HHT
  • TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2; HHT2
  • TEMTAMY SYNDROME; TEMTYS
  • THROMBOCYTHEMIA 1; THCYT1
  • THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR
  • THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT; THPH5
  • THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL; TTP
  • TREACHER COLLINS SYNDROME 1; TCS1
  • TREACHER COLLINS SYNDROME 2; TCS2
  • TUBEROUS SCLEROSIS 1; TSC1
  • TUBEROUS SCLEROSIS 2; TSC2
  • TYROSINEMIA, TYPE I; TYRSN1
  • ULNAR DEFICIENCY
  • ULNAR-MAMMARY SYNDROME; UMS
  • USHER SYNDROME, TYPE I; USH1
  • USHER SYNDROME, TYPE IF; USH1F
  • USHER SYNDROME, TYPE IIC; USH2C
  • VAN DER WOUDE SYNDROME 1; VWS1
  • VICI SYNDROME; VICIS
  • VON HIPPEL-LINDAU SYNDROME; VHL
  • WAARDENBURG SYNDROME, TYPE 2A; WS2A
  • WARBURG MICRO SYNDROME 1; WARBM1
  • WILSON DISEASE
  • WISKOTT-ALDRICH SYNDROME; WAS
  • WOLFRAM SYNDROME 1; WFS1
  • XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG

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