IKBKAP

Laboratory assay overview

This test offers molecular detection by next-generation sequencing (NGS) of variants for specified X-linked and autosomal recessive disorders and allows testing of individuals regardless of ancestry or geographic origin. Carrier screening aims to identify couples who have an increased risk of having an affected child to facilitate informed reproductive decision-making. As this is a screening test, this carrier panel is not intended to be used for diagnostic purposes. If diagnostic genetic testing is desired, please call Genomic Client Services (GENEINFO) at 866.436.3463 to discuss case with a Quest Genetic Counselor. This test analyzes genetic variants associated with 150 conditions including the 84 conditions included in QHerit™ Plus carrier screen. Conditions included in this panel include: 3-hydroxy-3-methylglutaryl-coA lyase deficiency (HMGCL); 3-methylcrotonyl-CoA carboxylase 1 deficiency (MCCC1); 3-methylcrotonyl-CoA carboxylase 2 deficiency (MCCC2); 6-pyruvoyl-tetrahydropterin synthase deficiency (PTS); Abetalipoproteinemia (MTTP); Adenosine deaminase deficiency (ADA); Adrenoleukodystrophy, X-linked (ABCD1); Agenesis of the corpus callosum with peripheral neuropathy (SLC12A6); Alpha-mannosidosis (MAN2B1); Alpha-thalassemia (HBA1/HBA2); Alport syndrome, COL4A3-related (COL4A3); Alport syndrome, COL4A4-related (COL4A4); Alport syndrome, COL4A5-related, X-linked (COL4A5); Argininosuccinic aciduria (ASL); Arthrogryposis, mental retardation, and seizures (SLC35A3); Aspartylglycosaminuria (AGA); Ataxia-telangiectasia (ATM); Autoimmune polyglandular syndrome, type 1 (AIRE); Autosomal recessive congenital ichthyosis 1 (TGM1); Autosomal recessive polycystic kidney disease (PKHD1); Bardet-Biedl syndrome 1 (BBS1); Bardet-Biedl syndrome 10 (BBS10); Bardet-Biedl syndrome 2 (BBS2); Beta hemoglobinopathies (HBB); Beta-ketothiolase deficiency (ACAT1); Biotinidase deficiency (BTD); Bloom syndrome (BLM); Canavan disease (ASPA); Carnitine deficiency, systemic primary (SLC22A5); Carnitine palmitoyltransferase II deficiency (CPT2); Cartilage-hair hypoplasia (RMRP); CEP290-related conditions (CEP290); Cerebrotendinous xanthomatosis (CYP27A1); Citrullinemia, type I (ASS1); Combined methylmalonic aciduria and homocystinuria, cblC type / Cobalamin C deficiency (MMACHC); Combined pituitary hormone deficiency, type 2 (PROP1); Congenital amegakaryocytic thrombocytopenia (MPL); Congenital disorder of glycosylation, type Ia (PMM2); Cystic fibrosis (CFTR); Cystinosis (CTNS); D-bifunctional protein deficiency (HSD17B4); Dihydrolipoamide dehydrogenase deficiency (DLD); Dyskeratosis congenita, RTEL1-related (RTEL1); Factor XI deficiency / Hemophilia C (F11); Familial dysautonomia (ELP1); Familial hyperinsulinism, ABCC8-related (ABCC8); Familial hyperinsulinism, KCNJ11-related (KCNJ11); Familial Mediterranean fever (MEFV); Fanconi anemia, Group A (FANCA); Fanconi anemia, Group C (FANCC); Fragile X syndrome (FMR1); Fukuyama congenital muscular dystrophy (Walker-Warburg) (FKTN); Galactosemia (GALT); Gaucher disease (GBA); GLB1-related disorders (GLB1); Glutaric acidemia, type I (GCDH); Glycine encephalopathy / Nonketotic hyperglycinemia (GLDC); Glycine encephalopathy, AMT-related (AMT); Glycogen storage disease, type Ia (G6PC); Glycogen storage disease, type Ib / IIw (SLC37A4); Glycogen storage disease, type II / Pompe disease (GAA); Glycogen storage disease, type III (AGL); Glycogen storage disease, type IV / Adult polyglucosan body disease (GBE1); GNE myopathy (GNE); GRACILE syndrome (BCS1L); Hereditary fructose intolerance (ALDOB); Hermansky-Pudlak syndrome, type 1 (HPS1); Hermansky-Pudlak syndrome, type 3 (HPS3); Holocarboxylase synthetase deficiency (HLCS); Homocystinuria, CBS-related (CBS); Hydrolethalus syndrome (HYLS1); Hypophosphatasia (ALPL); Infantile cerebral and cerebellar atrophy (MED17); Isovaleric acidemia (IVD); Joubert syndrome 2 (TMEM216); Junctional epidermolysis bullosa, LAMA3-related (LAMA3); Junctional epidermolysis bullosa, LAMB3-related (LAMB3); Junctional epidermolysis bullosa, LAMC2-related (LAMC2); Krabbe disease (GALC); LAMA2 muscular dystrophy (LAMA2); Lethal congenital contracture syndrome 1 (GLE1); Limb-girdle muscular dystrophy, type 2A (CAPN3); Limb-girdle muscular dystrophy, type 3 (SGCA); Limb-girdle muscular dystrophy, type 4 (SGCB); Long chain 3-hydroxyacyl-coa dehydrogenase deficiency (HADHA); Lysinuric protein intolerance (SLC7A7); Maple syrup urine disease, type 1A (BCKDHA); Maple syrup urine disease, type 1B (BCKDHB); Maple syrup urine disease, type 2 (DBT); Medium chain acyl-CoA dehydrogenase deficiency (ACADM); Menkes disease (ATP7A); Metachromatic leukodystrophy, ARSA-related (ARSA); Methylmalonic aciduria, MMAA-related (MMAA); Methylmalonic aciduria, MMAB-related (MMAB); Methylmalonic aciduria, MUT-related (MMUT); Mitochondrial complex IV deficiency, nuclear type 5 / Leigh syndrome, French-Canadian type (LRPPRC); Mucolipidosis II and mucolipidosis III alpha/beta (GNPTAB); Mucolipidosis, type IV (MCOLN1); Mucopolysaccharidosis, type I / Hurler syndrome (IDUA); Mucopolysaccharidosis, type II / Hunter syndrome (IDS); Mucopolysaccharidosis, type IIIA / Sanfilippo syndrome A (SGSH); Mucopolysaccharidosis, type IIIB / Sanfilippo syndrome B (NAGLU); Mucopolysaccharidosis, type IIIC / Sanfilippo syndrome C (HGSNAT); Mucopolysaccharidosis, type IIID / Sanfilippo syndrome D (GNS); Mucopolysaccharidosis, type VI / Maroteaux-Lamy syndrome (ARSB); Nemaline myopathy 2 (NEB); Neuronal ceroid lipofuscinosis, CLN3-related (CLN3); Neuronal ceroid lipofuscinosis, CLN5-related (CLN5); Neuronal ceroid lipofuscinosis, CLN6-related (CLN6); Neuronal ceroid lipofuscinosis, CLN8-related (CLN8); Neuronal ceroid lipofuscinosis, PPT1-related (PPT1); Neuronal ceroid lipofuscinosis, TPP1-related (TPP1); Niemann-Pick disease, type C1 (NPC1); Niemann-Pick disease, types A/B (SMPD1); Nijmegen breakage syndrome (NBN); Nonsyndromic hearing loss and deafness (DFNB) 1 (GJB2); Nonsyndromic hearing loss and deafness (DFNB) 77 (LOXHD1); Ornithine transcarbamylase deficiency, X-linked (OTC); Pendred syndrome (SLC26A4); Phenylalanine hydroxylase deficiency (PAH); Primary hyperoxaluria, type I (AGXT); Propionic acidemia, PCCA-related (PCCA); Propionic acidemia, PCCB-related (PCCB); Pyruvate carboxylase deficiency (PC); Retinitis pigmentosa 59 (DHDDS); Rhizomelic chondrodysplasia punctata, type 1 (PEX7); Sandhoff disease (HEXB); Sjogren-Larsson syndrome (ALDH3A2); Skeletal dysplasias, SLC26A2-related (SLC26A2); Smith-Lemli-Opitz syndrome (DHCR7); Spastic ataxia, Charlevoix-Saguenay type (SACS); Spinal muscular atrophy (SMN1); Spondylothoracic dysostosis and spondylocostal dysostosis 2 (MESP2); Steroid resistant nephrotic syndrome, type 1 (NPHS1); Steroid-resistant nephrotic syndrome, type 2 (NPHS2); Tay-Sachs disease (HEXA); Tyrosine hydroxylase deficiency (TH); Tyrosinemia, type I (FAH); Tyrosinemia, type II (TAT); Usher syndrome, type 1B (MYO7A); Usher syndrome, type 1C (USH1C); Usher syndrome, type 1D (CDH23); Usher syndrome, type 1F (PCDH15); Usher syndrome, type 2A (USH2A); Usher syndrome, type 3A (CLRN1); Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL); Wilson disease (ATP7B); Zellweger spectrum disorders, PEX1-related (PEX1); Zellweger spectrum disorders, PEX2-related (PEX2); Zellweger spectrum disorders, PEX6-related (PEX6)

Laboratory assay overview

This test offers offers molecular detection by next-generation sequencing (NGS) detection of variants for specified autosomal recessive disorders and allows testing of individuals regardless of ancestry or geographic origin. Carrier screening aims to identify couples who have an increased risk of having an affected child to facilitate informed reproductive decision-making. As this is a screening test, this carrier panel is not intended to be used for diagnostic purposes. If diagnostic genetic testing is desired, please call Genomic Client Services (GENEINFO) at 866.436.3463 to discuss case with a Quest Genetic Counselor. This test analyzes genetic variants associated with 144 conditions including the 78 autosomal recessive conditions included in QHerit™ Plus carrier screen. Conditions included in this panel include: 3-hydroxy-3-methylglutaryl-coA lyase deficiency (HMGCL); 3-methylcrotonyl-CoA carboxylase 1 deficiency (MCCC1); 3-methylcrotonyl-CoA carboxylase 2 deficiency (MCCC2); 6-pyruvoyl-tetrahydropterin synthase deficiency (PTS); Abetalipoproteinemia (MTTP); Adenosine deaminase deficiency (ADA); Agenesis of the corpus callosum with peripheral neuropathy (SLC12A6); Alpha-mannosidosis (MAN2B1); Alpha-thalassemia (HBA1/HBA2); Alport syndrome, COL4A3-related (COL4A3); Alport syndrome, COL4A4-related (COL4A4); Argininosuccinic aciduria (ASL); Arthrogryposis, mental retardation, and seizures (SLC35A3); Aspartylglycosaminuria (AGA); Ataxia-telangiectasia (ATM); Autoimmune polyglandular syndrome, type 1 (AIRE); Autosomal recessive congenital ichthyosis 1 (TGM1); Autosomal recessive polycystic kidney disease (PKHD1); Bardet-Biedl syndrome 1 (BBS1); Bardet-Biedl syndrome 10 (BBS10); Bardet-Biedl syndrome 2 (BBS2); Beta hemoglobinopathies (HBB); Beta-ketothiolase deficiency (ACAT1); Biotinidase deficiency (BTD); Bloom syndrome (BLM); Canavan disease (ASPA); Carnitine deficiency, systemic primary (SLC22A5); Carnitine palmitoyltransferase II deficiency (CPT2); Cartilage-hair hypoplasia (RMRP); CEP290-related conditions (CEP290); Cerebrotendinous xanthomatosis (CYP27A1); Citrullinemia, type I (ASS1); Combined methylmalonic aciduria and homocystinuria, cblC type / Cobalamin C deficiency (MMACHC); Combined pituitary hormone deficiency, type 2 (PROP1); Congenital amegakaryocytic thrombocytopenia (MPL); Congenital disorder of glycosylation, type Ia (PMM2); Cystic fibrosis (CFTR); Cystinosis (CTNS); D-bifunctional protein deficiency (HSD17B4); Dihydrolipoamide dehydrogenase deficiency (DLD); Dyskeratosis congenita, RTEL1-related (RTEL1); Factor XI deficiency / Hemophilia C (F11); Familial dysautonomia (ELP1); Familial hyperinsulinism, ABCC8-related (ABCC8); Familial hyperinsulinism, KCNJ11-related (KCNJ11); Familial Mediterranean fever (MEFV); Fanconi anemia, Group A (FANCA); Fanconi anemia, Group C (FANCC); Fukuyama congenital muscular dystrophy (Walker-Warburg) (FKTN); Galactosemia (GALT); Gaucher disease (GBA); GLB1-related disorders (GLB1); Glutaric acidemia, type I (GCDH); Glycine encephalopathy / Nonketotic hyperglycinemia (GLDC); Glycine encephalopathy, AMT-related (AMT); Glycogen storage disease, type Ia (G6PC); Glycogen storage disease, type Ib / IIw (SLC37A4); Glycogen storage disease, type II / Pompe disease (GAA); Glycogen storage disease, type III (AGL); Glycogen storage disease, type IV / Adult polyglucosan body disease (GBE1); GNE myopathy (GNE); GRACILE syndrome (BCS1L); Hereditary fructose intolerance (ALDOB); Hermansky-Pudlak syndrome, type 1 (HPS1); Hermansky-Pudlak syndrome, type 3 (HPS3); Holocarboxylase synthetase deficiency (HLCS); Homocystinuria, CBS-related (CBS); Hydrolethalus syndrome (HYLS1); Hypophosphatasia (ALPL); Infantile cerebral and cerebellar atrophy (MED17); Isovaleric acidemia (IVD); Joubert syndrome 2 (TMEM216); Junctional epidermolysis bullosa, LAMA3-related (LAMA3); Junctional epidermolysis bullosa, LAMB3-related (LAMB3); Junctional epidermolysis bullosa, LAMC2-related (LAMC2); Krabbe disease (GALC); LAMA2 muscular dystrophy (LAMA2); Lethal congenital contracture syndrome 1 (GLE1); Limb-girdle muscular dystrophy, type 2A (CAPN3); Limb-girdle muscular dystrophy, type 3 (SGCA); Limb-girdle muscular dystrophy, type 4 (SGCB); Long chain 3-hydroxyacyl-coa dehydrogenase deficiency (HADHA); Lysinuric protein intolerance (SLC7A7); Maple syrup urine disease, type 1A (BCKDHA); Maple syrup urine disease, type 1B (BCKDHB); Maple syrup urine disease, type 2 (DBT); Medium chain acyl-CoA dehydrogenase deficiency (ACADM); Metachromatic leukodystrophy, ARSA-related (ARSA); Methylmalonic aciduria, MMAA-related (MMAA); Methylmalonic aciduria, MMAB-related (MMAB); Methylmalonic aciduria, MUT-related (MMUT); Mitochondrial complex IV deficiency, nuclear type 5 / Leigh syndrome, French-Canadian type (LRPPRC); Mucolipidosis II and mucolipidosis III alpha/beta (GNPTAB); Mucolipidosis, type IV (MCOLN1); Mucopolysaccharidosis, type I / Hurler syndrome (IDUA); Mucopolysaccharidosis, type IIIA / Sanfilippo syndrome A (SGSH); Mucopolysaccharidosis, type IIIB / Sanfilippo syndrome B (NAGLU); Mucopolysaccharidosis, type IIIC / Sanfilippo syndrome C (HGSNAT); Mucopolysaccharidosis, type IIID / Sanfilippo syndrome D (GNS); Mucopolysaccharidosis, type VI / Maroteaux-Lamy syndrome (ARSB); Nemaline myopathy 2 (NEB); Neuronal ceroid lipofuscinosis, CLN3-related (CLN3); Neuronal ceroid lipofuscinosis, CLN5-related (CLN5); Neuronal ceroid lipofuscinosis, CLN6-related (CLN6); Neuronal ceroid lipofuscinosis, CLN8-related (CLN8); Neuronal ceroid lipofuscinosis, PPT1-related (PPT1); Neuronal ceroid lipofuscinosis, TPP1-related (TPP1); Niemann-Pick disease, type C1 (NPC1); Niemann-Pick disease, types A/B (SMPD1); Nijmegen breakage syndrome (NBN); Nonsyndromic hearing loss and deafness (DFNB) 1 (GJB2); Nonsyndromic hearing loss and deafness (DFNB) 77 (LOXHD1); Pendred syndrome (SLC26A4); Phenylalanine hydroxylase deficiency (PAH); Primary hyperoxaluria, type I (AGXT); Propionic acidemia, PCCA-related (PCCA); Propionic acidemia, PCCB-related (PCCB); Pyruvate carboxylase deficiency (PC); Retinitis pigmentosa 59 (DHDDS); Rhizomelic chondrodysplasia punctata, type 1 (PEX7); Sandhoff disease (HEXB); Sjogren-Larsson syndrome (ALDH3A2); Skeletal dysplasias, SLC26A2-related (SLC26A2); Smith-Lemli-Opitz syndrome (DHCR7); Spastic ataxia, Charlevoix-Saguenay type (SACS); Spinal muscular atrophy (SMN1); Spondylothoracic dysostosis and spondylocostal dysostosis 2 (MESP2); Steroid resistant nephrotic syndrome, type 1 (NPHS1); Steroid-resistant nephrotic syndrome, type 2 (NPHS2); Tay-Sachs disease (HEXA); Tyrosine hydroxylase deficiency (TH); Tyrosinemia, type I (FAH); Tyrosinemia, type II (TAT); Usher syndrome, type 1B (MYO7A); Usher syndrome, type 1C (USH1C); Usher syndrome, type 1D (CDH23); Usher syndrome, type 1F (PCDH15); Usher syndrome, type 2A (USH2A); Usher syndrome, type 3A (CLRN1); Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL); Wilson disease (ATP7B); Zellweger spectrum disorders, PEX1-related (PEX1); Zellweger spectrum disorders, PEX2-related (PEX2); Zellweger spectrum disorders, PEX6-related (PEX6)

Laboratory assay overview

This test offers molecular detection by next-generation sequencing (NGS) of variants for specified X-linked and autosomal recessive disorders and allows testing of individuals regardless of ancestry or geographic origin. Carrier screening aims to identify couples who have an increased risk of having an affected child to facilitate informed reproductive decision-making. As this is a screening test, this carrier panel is not intended to be used for diagnostic purposes. If diagnostic genetic testing is desired, please call Genomic Client Services (GENEINFO) at 866.436.3463 to discuss case with a Quest Genetic Counselor. This test analyzes genetic variants associated with 84 conditions including all 22 conditions contained in QHerit™. Conditions included in this panel: Abetalipoproteinemia (MTTP); Adrenoleukodystrophy, X-linked (ABCD1); Alpha-thalassemia (HBA1/HBA2); Argininosuccinic aciduria (ASL); Ataxia-telangiectasia (ATM); Autosomal recessive polycystic kidney disease (PKHD1); Bardet-Biedl syndrome 1 (BBS1); Bardet-Biedl syndrome 2 (BBS2); Beta hemoglobinopathies (HBB); Biotinidase deficiency (BTD); Bloom syndrome (BLM); Canavan disease (ASPA); Carnitine deficiency, systemic primary (SLC22A5); Carnitine palmitoyltransferase II deficiency (CPT2); Cerebrotendinous xanthomatosis (CYP27A1); Citrullinemia, type I (ASS1); Combined methylmalonic aciduria and homocystinuria, cblC type / Cobalamin C deficiency (MMACHC); Combined pituitary hormone deficiency, type 2 (PROP1); Congenital amegakaryocytic thrombocytopenia (MPL); Congenital disorder of glycosylation, type Ia (PMM2); Cystic fibrosis (CFTR); Cystinosis (CTNS); D-bifunctional protein deficiency (HSD17B4); Dihydrolipoamide dehydrogenase deficiency (DLD); Factor XI deficiency / Hemophilia C (F11); Familial dysautonomia (ELP1); Familial hyperinsulinism, ABCC8-related (ABCC8); Familial Mediterranean fever (MEFV); Fanconi anemia, complementation group C (FANCC); Fragile X syndrome (FMR1); Fukuyama congenital muscular dystrophy (Walker-Warburg) (FKTN); Galactosemia (GALT); Gaucher disease (GBA); Glutaric acidemia, type I (GCDH); Glycogen storage disease, type Ia (G6PC); Glycogen storage disease, type II / Pompe disease (GAA); Glycogen storage disease, type III (AGL); Glycogen storage disease, type IV / Adult polyglucosan body disease (GBE1); GRACILE syndrome (BCS1L); Hereditary fructose intolerance (ALDOB); Hermansky-Pudlak syndrome, type 1 (HPS1); Hermansky-Pudlak syndrome, type 3 (HPS3); Hypophosphatasia (ALPL); Joubert syndrome 2 (TMEM216); Krabbe disease (GALC); Limb-girdle muscular dystrophy, type 2A (CAPN3); Limb-girdle muscular dystrophy, type 3 (SGCA); Long chain 3-hydroxyacyl-coa dehydrogenase deficiency (HADHA); Maple syrup urine disease, type 1A (BCKDHA); Maple syrup urine disease, type 1B (BCKDHB); Medium chain acyl-CoA dehydrogenase deficiency (ACADM); Metachromatic leukodystrophy, ARSA-related (ARSA); Mucolipidosis II and mucolipidosis III alpha/beta (GNPTAB); Mucolipidosis, type IV (MCOLN1); Mucopolysaccharidosis, type I / Hurler syndrome (IDUA); Mucopolysaccharidosis, type IIIA / Sanfilippo syndrome A (SGSH); Nemaline myopathy 2 (NEB); Neuronal ceroid lipofuscinosis, CLN3-related (CLN3); Neuronal ceroid lipofuscinosis, CLN5-related (CLN5); Neuronal ceroid lipofuscinosis, CLN8-related (CLN8); Neuronal ceroid lipofuscinosis, PPT1-related (PPT1); Neuronal ceroid lipofuscinosis, TPP1-related (TPP1); Niemann-Pick disease, types A/B (SMPD1); Nijmegen breakage syndrome (NBN); Nonsyndromic hearing loss and deafness (DFNB) 1 (GJB2); Ornithine transcarbamylase deficiency, X-linked (OTC); Pendred syndrome (SLC26A4); Phenylalanine hydroxylase deficiency (PAH); Primary hyperoxaluria, type I (AGXT); Propionic acidemia, PCCA-related (PCCA); Propionic acidemia, PCCB-related (PCCB); Sjogren-Larsson syndrome (ALDH3A2); Skeletal dysplasias, SLC26A2-related (SLC26A2); Smith-Lemli-Opitz syndrome (DHCR7); Spinal muscular atrophy (SMN1); Steroid resistant nephrotic syndrome, type 1 (NPHS1); Tay-Sachs disease (HEXA); Tyrosinemia, type I (FAH); Usher syndrome, type 1F (PCDH15); Usher syndrome, type 2A (USH2A); Usher syndrome, type 3A (CLRN1); Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL); Wilson disease (ATP7B); Zellweger spectrum disorders, PEX2-related (PEX2)

Laboratory assay overview

This test offers molecular detection by next generation sequencing (NGS) of variants for specified autosomal recessive disorders and allows testing of individuals regardless of ancestry or geographic origin. Carrier screening aims to identify couples who have an increased risk of having an affected child to facilitate informed reproductive decision-making. As this is a screening test, this carrier panel is not intended to be used for diagnostic purposes. If diagnostic genetic testing is desired, please call Genomic Client Services (GENEINFO) at 866.436.3463 to discuss case with a Quest Genetic Counselor. This test analyzes genetic variants associated with 81 conditions including 21 autosomal recessive conditions contained in QHerit™. Conditions included in this panel: Abetalipoproteinemia (MTTP); Alpha-thalassemia (HBA1/HBA2); Argininosuccinic aciduria (ASL); Ataxia-telangiectasia (ATM); Autosomal recessive polycystic kidney disease (PKHD1); Bardet-Biedl syndrome 1 (BBS1); Bardet-Biedl syndrome 2 (BBS2); Beta hemoglobinopathies (HBB); Biotinidase deficiency (BTD); Bloom syndrome (BLM); Canavan disease (ASPA); Carnitine deficiency, systemic primary (SLC22A5); Carnitine palmitoyltransferase II deficiency (CPT2); Cerebrotendinous xanthomatosis (CYP27A1); Citrullinemia, type I (ASS1); Combined methylmalonic aciduria and homocystinuria, cblC type / Cobalamin C deficiency (MMACHC); Combined pituitary hormone deficiency, type 2 (PROP1); Congenital amegakaryocytic thrombocytopenia (MPL); Congenital disorder of glycosylation, type Ia (PMM2); Cystic fibrosis (CFTR); Cystinosis (CTNS); D-bifunctional protein deficiency (HSD17B4); Dihydrolipoamide dehydrogenase deficiency (DLD); Factor XI deficiency / Hemophilia C (F11); Familial dysautonomia (ELP1); Familial hyperinsulinism, ABCC8-related (ABCC8); Familial Mediterranean fever (MEFV); Fanconi anemia, complementation group C (FANCC); Fukuyama congenital muscular dystrophy (Walker-Warburg) (FKTN); Galactosemia (GALT); Gaucher disease (GBA); Glutaric acidemia, type I (GCDH); Glycogen storage disease, type Ia (G6PC); Glycogen storage disease, type II / Pompe disease (GAA); Glycogen storage disease, type III (AGL); Glycogen storage disease, type IV / Adult polyglucosan body disease (GBE1); GRACILE syndrome (BCS1L); Hereditary fructose intolerance (ALDOB); Hermansky-Pudlak syndrome, type 1 (HPS1); Hermansky-Pudlak syndrome, type 3 (HPS3); Hypophosphatasia (ALPL); Joubert syndrome 2 (TMEM216); Krabbe disease (GALC); Limb-girdle muscular dystrophy, type 2A (CAPN3); Limb-girdle muscular dystrophy, type 3 (SGCA); Long chain 3-hydroxyacyl-coa dehydrogenase deficiency (HADHA); Maple syrup urine disease, type 1A (BCKDHA); Maple syrup urine disease, type 1B (BCKDHB); Medium chain acyl-CoA dehydrogenase deficiency (ACADM); Metachromatic leukodystrophy, ARSA-related (ARSA); Mucolipidosis II and mucolipidosis III alpha/beta (GNPTAB); Mucolipidosis, type IV (MCOLN1); Mucopolysaccharidosis, type I / Hurler syndrome (IDUA); Mucopolysaccharidosis, type IIIA / Sanfilippo syndrome A (SGSH); Nemaline myopathy 2 (NEB); Neuronal ceroid lipofuscinosis, CLN3-related (CLN3); Neuronal ceroid lipofuscinosis, CLN5-related (CLN5); Neuronal ceroid lipofuscinosis, CLN8-related (CLN8); Neuronal ceroid lipofuscinosis, PPT1-related (PPT1); Neuronal ceroid lipofuscinosis, TPP1-related (TPP1); Niemann-Pick disease, types A/B (SMPD1); Nijmegen breakage syndrome (NBN); Nonsyndromic hearing loss and deafness (DFNB) 1 (GJB2); Pendred syndrome (SLC26A4); Phenylalanine hydroxylase deficiency (PAH); Primary hyperoxaluria, type I (AGXT); Propionic acidemia, PCCA-related (PCCA); Propionic acidemia, PCCB-related (PCCB); Sjogren-Larsson syndrome (ALDH3A2); Skeletal dysplasias, SLC26A2-related (SLC26A2); Smith-Lemli-Opitz syndrome (DHCR7); Spinal muscular atrophy (SMN1); Steroid resistant nephrotic syndrome, type 1 (NPHS1); Tay-Sachs disease (HEXA); Tyrosinemia, type I (FAH); Usher syndrome, type 1F (PCDH15); Usher syndrome, type 2A (USH2A); Usher syndrome, type 3A (CLRN1); Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL); Wilson disease (ATP7B); Zellweger spectrum disorders, PEX2-related (PEX2)