Diseases Tested – Preconception Genetic Carrier Screen DISEASE CODE DISEASE CODE 17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY HSD17B3 ATELOSTEOGENESIS, TYPE II SLC26A2 3-@METHYLGLUTACONIC ACIDURIA, TYPE III OPA3 a-THALASSEMIA/MENTAL RETARDATION SYNDROME,NONDELETION TYPE, X-LINKED ATRX 3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY TYPE II HSD3B2 ATYPICAL MYCOBACTERIOSIS, FAMILIAL IFNGR1 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY HMGCL ATYPICAL MYCOBACTERIOSIS, FAMILIAL IFNGR2 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY HADH ATYPICAL MYCOBACTERIOSIS, FAMILIAL IKBKG 3-METHYLGLUTACONIC ACIDURIA, TYPE I AUH ATYPICAL MYCOBACTERIOSIS, FAMILIAL IL12B 3-METHYLGLUTACONIC ACIDURIA, TYPE V DNAJC19 ATYPICAL MYCOBACTERIOSIS, FAMILIAL IL12RB1 ABCD SYNDROME EDNRB ATYPICAL MYCOBACTERIOSIS, FAMILIAL STAT1 ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME AAAS ATYPICAL MYCOBACTERIOSIS, FAMILIAL TYK2 ACHONDROGENESIS, TYPE IB ACG1B SLC26A2 AUTOIMMUNE POLYENDOCRINE SYNDROME TYPE I AIRE ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF ACADL Autosomal mental retardation NSUN2 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, ACADM Autosomal mental retardation ST3GAL3 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, ACADVL Autosomal mental retardation CDG 1Q SRD5A3 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY CYP21A2 BARTH SYNDROME TAZ ADRENOLEUKODYSTROPHY ABCD1 BARTTER SYNDROME, ANTENATAL, TYPE 1 SLC12A1 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM PEX1 BARTTER SYNDROME, ANTENATAL, TYPE 2 KCNJ1 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM | PEX10 BETA-HYDROXYISOBUTYRYL CoA DEACYLASE, DEFICIENCY OF HIBCH ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM | PEX13 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4 AMACR ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM | PEX26 BIOTINIDASE DEFICIENCY BTD ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM | PEX5 BLOOM SYNDROME BLM AGAMMAGLOBULINEMIA, X-LINKED BTK BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, BETA POLYPEPTIDE BCKDHB AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY ACCPN SLC12A6 BRITTLE CORNEA SYNDROME (Ehlers-Danlos syndrome type VIB) ZNF469 AICARDI-GOUTIERES SYNDROME 1 TREX1 CANAVAN DISEASE ASPA AICARDI-GOUTIERES SYNDROME 2 RNASEH2B CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO CPS1 AICARDI-GOUTIERES SYNDROME 3 RNASEH2C CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE SCO2 AICARDI-GOUTIERES SYNDROME 4 RNASEH2A CARDIOMYOPATHY, DILATED, 3A TAZ AICARDI-GOUTIERES SYNDROME 5 SAMDH1 CARNITINE DEFICIENCY, SYSTEMIC PRIMARY SLC22A5 ALLAN-HERNDON-DUDLEY SYNDROME AHDS SLC16A2 CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY CPT1A ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC POLG CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE CPT2 CIRRHOSIS CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET CPT2 ALPHA THALASSEMIA HBA1 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL CPT2 ALPHA-METHYLACETOACETIC ACIDURIA ACAT1 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY SLC25A20 ALPORT SYNDROME, AUTOSOMAL RECESSIVE COL4A3 CARPENTER SYNDROME RAB23 ALPORT SYNDROME, AUTOSOMAL RECESSIVE COL4A4 CARTILAGE-HAIR HYPOPLASIA RMRP ALPORT SYNDROME, X-LINKED Col4A5 CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT VLDLR ALSTROM SYNDROME ALMS1 QUADRUPEDAL AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL MPL CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR SNAP29 KERATODERMA AMISH INFANTILE EPILEPSY SYNDROME ST3GAL5 CEREBROOCULOFACIOSKELETAL SYNDROME 1 ERCC6 ANAUXETIC DYSPLASIA RMRP CEREBROTENDINOUS XANTHOMATOSIS CYP27A1 ANHYDROTIC ECTODERMAL DYSPLASIA, IMMUNODEFICIENCY, OSTEOPETROSIS, IKBKG LYMPHEDEMA OLEDAID CEROID LIPOFUSCINOSIS, NEURONAL, 10 CTSD ANTIBODY DEFICIENCY DUE TO ICOS DEFECT ICOS CEROID LIPOFUSCINOSIS, NEURONAL, 6 CLN6 ANTLEY-BIXLER SYNDROME POR CEROID LIPOFUSCINOSIS, NEURONAL, 7 MFSD8 ARGININOSUCCINIC ACIDURIA ASL CEROID LIPOFUSCINOSIS, NEURONAL, 8 CLN8 AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY DDC CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT CLN8 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY ENPP1 CHARCOT-MARIE-TOOTH DISEASE TYPE 4A GDAP1 ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS VPS33B CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H FGD4 ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 VIPAR CHEDIAK HIGASHI SYNDROME LYST ARTS SYNDROME PRPS1 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC ABCB4 ASPHYXIATING THORACIC DYSTROPHY 2 IFT80 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1 ATP8B1 ASPHYXIATING THORACIC DYSTROPHY 3 DYNC2H1 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2 ABCB11 ATAXIA, EARLY-ONSET, WITH oculomotor apraxia AND HYPOALBUMINEMIA APTX CHONDRODYSPLASIA, BLOMSTRAND TYPE PTH1R ATAXIA-TELANGIECTASIA ATM CITRULLINEMIA, CLASSIC ASS1 Diseases Tested – Preconception Genetic Carrier Screen DISEASE CODE DISEASE CODE COCKAYNE SYNDROME TYPE B ERCC6 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If MPDU1 COCKAYNE SYNDROME, TYPE A ERCC8 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih ALG8 COENZYME Q10 DEFICIENCY PDSS2 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iie COG7 COENZYME Q10 DEFICIENCY APTX CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iif SLC35A1 COENZYME Q10 DEFICIENCY CABC1 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij DPAGT1 COENZYME Q10 DEFICIENCY COQ2 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik ALG1 COENZYME Q10 DEFICIENCY COQ9 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il ALG9 COENZYME Q10 DEFICIENCY PDSS1 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In RFT1 COFFIN-LOWRY SYNDROME CLS RPS6KA3 CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS SLC4A11 COHEN SYNDROME VPS13B CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA ARX COMBINED IMMUNODEFICIENCY, X-LINKED IL2RG CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED L1CAM COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 GFM1 CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY HSD11B2 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2 MRPS16 CRANIOFRONTONASAL SYNDROME EFNB1 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 TSFM CREATINE DEFICIENCY SYNDROME, X-LINKED SLC6A8 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 TUFM CRISPONI SYNDROME CRLF1 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 MRPS22 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I EFEMP2 COMBINED SAPOSIN DEFICIENCY PSAP CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I FBLN5 Complex I Deficiency NDUFA7 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE II ATP6V0A2 Complex I Deficiency NDUFA1 CYSTIC FIBROSIS CFTR Complex I Deficiency NDUFAF2 CYSTINOSIS, ADULT NONNEPHROPATHIC CTNS Complex I Deficiency NDUFAF4 CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE CTNS Complex I Deficiency NDUFS3 CYSTINOSIS, NEPHROPATHIC CTNS Complex I Deficiency NDUFS4 D-BIFUNCTIONAL PROTEIN DEFICIENCY HSD17B4 Complex I Deficiency NDUFS5 DE SANCTIS-CACCHIONE SYNDROME ERCC6 Complex I Deficiency NDUFS6 DE SANCTIS-CACCHIONE SYNDROME XPA Complex I Deficiency NDUFS7 DEFICIENCY OF ACYL-CoA DEHYDROGENASE FAMILY MEMBER 9 ACAD9 Complex I Deficiency NDUFS8 DEFICIENCY OF INTERLEUKIN 1 RECEPTOR ANTAGONIST IL1RN Complex I Deficiency NDUFV1 DENT DISEASE 1 CLCN5 Complex IV deficiency COX10 DESMOSTEROLOSIS DHCR24 Complex IV deficiency COX15 DIARRHEA 4, MALABSORPTIVE, CONGENITAL NEUROG3 Complex IV deficiency COX6B1 DIASTROPHIC DYSPLASIA SLC26A2 Complex IV deficiency FASTKD2 DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY DLD Complex IV deficiency sco1 DIHYDROPYRIMIDINE DEHYDROGENASE DPYD Complex IV deficiency sco2 DISORDERED STEROIDOGENESIS POR CONGENITAL ADRENAL HYPERPLASIA CYP11B1 DONNAI-BARROW SYNDROME LRP2 CONGENITAL ADRENAL HYPERPLASIA CYP17A1 DONOHUE SYNDROME INSR CONGENITAL ADRENAL HYPOPLASIA NR0B1 DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE HSPG2 CONGENITAL DEAFNESS WITH KERATOPACHYDERMIA & CONSTRICTIONS GJB2 OF FINGERS & TOES ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY IKBKG CONGENITAL DISORDER OF GLYCOSYLATIO, TYPE IIa MGAT2 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, X-LINKED EDA CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ia PMM2 ELEJALDE DISEASE MYO5A CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ic ALG6 ELLIS-VAN CREVELD SYNDROME EVC2 CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ig ALG12 ELLIS-VAN CREVELD SYNDROME; EVC EVC CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ii ALG2 ENCEPHALOPATHY, ETHYLMALONIC ETHE1 CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIb MOGS EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE COL7A1 CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIc SLC35C1 EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA ITGA6 CONGENITAL DISORDER OF GLYCOSYLATION TYPE IId B4GALT1 EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA ITGB4 CONGENITAL DISORDER OF GLYCOSYLATION TYPE Iig COG1 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY PLEC1 CONGENITAL DISORDER OF GLYCOSYLATION TYPE Iih COG8 EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE LAMA3 CONGENITAL DISORDER OF GLYCOSYLATION TYPE Im DOLK EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE LAMB3 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib MPI EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE LAMC2 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; ALG3 EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE COL17A1 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie DPM1 EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE ITGB4 Diseases Tested – Preconception Genetic Carrier Screen DISEASE CODE DISEASE CODE EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE LAMA3 HEMOPHILIA A; HEMA F8 EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE LAMB3 HEMOPHILIA B; HEMB F9 EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE LAMC2 HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY VODI SP110