Diseases We Screen For

Diseases we screen for

Sema4 Expanded Carrier Screen is a highly accurate and comprehensive carrier test for more than 280 genetic diseases. It was specifically designed to screen for hereditary conditions across many different ethnicities. With our Expanded Carrier Screen, testing can be performed for more than 280 genes, a smaller subset of genes, or even just 1 gene. The Expanded Carrier Screen panel also includes 101 genes associated with Jewish founder mutations to provide comprehensive coverage for patients with Jewish ancestry. It screens for more diseases in the Ashkenazi population than any other Jewish carrier screen and is the first of its kind to address the largely overlooked needs of the Sephardi and Mizrahi Jewish populations.

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3
- 3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency (HSD3B2)
- 3-Methylcrotonyl-CoA Carboxylase Deficiency (MCCC1-Related) (MCCC1)
- 3-Methylcrotonyl-CoA Carboxylase Deficiency (MCCC2-Related) (MCCC2)
- 3-Methylglutaconic Aciduria, Type III (OPA3)
- 3-Phosphoglycerate Dehydrogenase Deficiency (PHGDH)
6
- 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency (PTS)
A
- Abetalipoproteinemia (MTTP)
- Achromatopsia (CNGB3)
- Acrodermatitis Enteropathica (SLC39A4)
- Acute Infantile Liver Failure (TRMU)
- Acyl-CoA Oxidase I Deficiency (ACOX1)
- Adenosine Deaminase Deficiency (ADA)
- Adrenoleukodystrophy, X-Linked (ABCD1)
- Aicardi-Goutieres Syndrome (SAMHD1)
- Alpha-Mannosidosis (MAN2B1)
- Alpha-Thalassemia (HBA1 and HBA2)
- Alpha-Thalassemia Mental Retardation Syndrome (ATRX)
- Alport Syndrome (COL4A3-Related) (COL4A3)
- Alport Syndrome (COL4A4-Related) (COL4A4)
- Alport Syndrome (COL4A5-Related) (COL4A5)
- Alstrom Syndrome (ALMS1)
- Andermann Syndrome (SLC12A6)
- Argininosuccinic Aciduria (ASL)
- Aromatase Deficiency (CYP19A1)
- Arthrogryposis, Mental Retardation, and Seizures (SLC35A3)
- Asparagine Synthetase Deficiency (ASNS)
- Aspartylglycosaminuria (AGA)
- Ataxia with Isolated Vitamin E Deficiency (TTPA)
- Ataxia-Telangiectasia (ATM)
- Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (SACS)
B
- Bardet-Biedl Syndrome (BBS1-Related) (BBS1)
- Bardet-Biedl Syndrome (BBS10-Related) (BBS10)
- Bardet-Biedl Syndrome (BBS12-Related) (BBS12)
- Bardet-Biedl Syndrome (BBS2-Related) (BBS2)
- Bare Lymphocyte Syndrome, Type II (CIITA)
- Bartter Syndrome, Type 4A (BSND)
- Bernard-Soulier Syndrome, Type A1 (GP1BA)
- Bernard-Soulier Syndrome, Type C (GP9)
- Beta-Globin-Related Hemoglobinopathies (HBB)
- Beta-Ketothiolase Deficiency (ACAT1)
- Bilateral Frontoparietal Polymicrogyria (GPR56)
- Biotinidase Deficiency (BTD)
- Bloom Syndrome (BLM)
C
- Canavan Disease (ASPA)
- Carbamoylphosphate Synthetase I Deficiency (CPS1)
- Carnitine Palmitoyltransferase IA Deficiency (CPT1A)
- Carnitine Palmitoyltransferase II Deficiency (CPT2)
- Carpenter Syndrome (RAB23)
- Cartilage-Hair Hypoplasia (RMRP)
- Cerebral Creatine Deficiency Syndrome 1 (SLC6A8)
- Cerebral Creatine Deficiency Syndrome 2 (GAMT)
- Cerebrotendinous Xanthomatosis (CYP27A1)
- Charcot-Marie-Tooth Disease, Type 4D (NDRG1)
- Charcot-Marie-Tooth Disease, Type 5 / Arts syndrome (PRPS1)
- Charcot-Marie-Tooth Disease, X-Linked (GJB1)
- Choreoacanthocytosis (VPS13A)
- Choroideremia (CHM)
- Chronic Granulomatous Disease (CYBA-related) (CYBA)
- Chronic Granulomatous Disease (CYBB-related) (CYBB)
- Citrin Deficiency (SLC25A13)
- Citrullinemia, Type 1 (ASS1)
- Cohen Syndrome (VPS13B)
- Combined Malonic and Methylmalonic Aciduria (ACSF3)
- Combined Oxidative Phosphorylation Deficiency 1 (GFM1)
- Combined Oxidative Phosphorylation Deficiency 3 (TSFM)
- Combined Pituitary Hormone Deficiency 2 (PROP1)
- Combined Pituitary Hormone Deficiency 3 (LHX3)
- Combined SAP Deficiency (PSAP)
- Congenital Adrenal Hyperplasia (CAH) due to 21-Alpha-Hydroxylase Deficiency (CYP21A2)
- Congenital Adrenal Hyperplasia due to 17-Alpha-Hydroxylase Deficiency (CYP17A1)
- Congenital Amegakaryocytic Thrombocytopenia (MPL)
- Congenital Disorder of Glycosylation, Type Ia (PMM2)
- Congenital Disorder of Glycosylation, Type Ib (MPI)
- Congenital Disorder of Glycosylation, Type Ic (ALG6)
- Congenital Insensitivity to Pain with Anhidrosis (NTRK1)
- Congenital Myasthenic Syndrome (CHRNE-Related) (CHRNE)
- Congenital Myasthenic Syndrome (RAPSN-Related) (RAPSN)
- Congenital Neutropenia (HAX1-Related) (HAX1)
- Congenital Neutropenia (VPS45-Related) (VPS45)
- Corneal Dystrophy and Perceptive Deafness (SLC4A11)
- Corticosterone Methyloxidase Deficiency (CYP11B2)
- Cystic Fibrosis (CFTR)
- Cystinosis (CTNS)
D
- D-Bifunctional Protein Deficiency (HSD17B4)
- Deafness, Autosomal Recessive 77 (LOXHD1)
- Duchenne Muscular Dystrophy / Becker Muscular Dystrophy (DMD)
- Dyskeratosis Congenita (RTEL1-Related) (RTEL1)
- Dystrophic Epidermolysis Bullosa (COL7A1)
E
- Ehlers-Danlos Syndrome, Type VIIC (ADAMTS2)
- Ellis-van Creveld Syndrome (EVC-Related) (EVC)
- Emery-Dreifuss Myopathy 1 (EMD)
- Enhanced S-Cone Syndrome (NR2E3)
- Ethylmalonic Encephalopathy (ETHE1)
F
- Fabry Disease (GLA)
- Factor IX Deficiency (F9)
- Factor XI Deficiency (F11)
- Familial Autosomal Recessive Hypercholesterolemia (LDLRAP1)
- Familial Dysautonomia (IKBKAP)
- Familial Hypercholesterolemia (LDLR)
- Familial Hyperinsulinism (ABCC8-Related) (ABCC8)
- Familial Hyperinsulinism (KCNJ11-Related) (KCNJ11)
- Familial Mediterranean Fever (MEFV)
- Fanconi Anemia, Group A (FANCA)
- Fanconi Anemia, Group C (FANCC)
- Fanconi Anemia, Group G (FANCG)
- Fragile X Syndrome (FMR1)
- Fumarase Deficiency (FH)
G
- Galactokinase Deficiency (GALK1)
- Galactosemia (GALT)
- Gaucher Disease (GBA)
- Gitelman Syndrome (SLC12A3)
- Glutaric Acidemia, Type I (GCDH)
- Glutaric Acidemia, Type IIa (ETFA)
- Glutaric Acidemia, Type IIc (ETFDH)
- Glycine Encephalopathy (AMT-Related) (AMT)
- Glycine Encephalopathy (GLDC-Related) (GLDC)
- Glycogen Storage Disease, Type Ia (G6PC)
- Glycogen Storage Disease, Type Ib (SLC37A4)
- Glycogen Storage Disease, Type II (GAA)
- Glycogen Storage Disease, Type III (AGL)
- Glycogen Storage Disease, Type IV / Adult Polyglucosan Body Disease (GBE1)
- Glycogen Storage Disease, Type V (PYGM)
- Glycogen Storage Disease, Type VII (PFKM)
- GRACILE Syndrome and Other BCS1L-Related Disorders (BCS1L)
H
- Hemochromatosis, Type 2A (HFE2)
- Hemochromatosis, Type 3 (TFR2)
- Hereditary Fructose Intolerance (ALDOB)
- Hereditary Spastic Paraparesis 49 (TECPR2)
- Hermansky-Pudlak Syndrome, Type 1 (HPS1)
- Hermansky-Pudlak Syndrome, Type 3 (HPS3)
- HMG-CoA Lyase Deficiency (HMGCL)
- Holocarboxylase Synthetase Deficiency (HLCS)
- Homocystinuria (CBS-Related) (CBS)
- Homocystinuria due to MTHFR Deficiency (MTHFR)
- Homocystinuria, cblE Type (MTRR)
- Hydrolethalus Syndrome (HYLS1)
- Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome (SLC25A15)
- Hypohidrotic Ectodermal Dysplasia 1 (EDA)
- Hypophosphatasia (ALPL)
I
- Inclusion Body Myopathy 2 (GNE)
- Infantile Cerebral and Cerebellar Atrophy (MED17)
- Isovaleric Acidemia (IVD)
J
- Joubert Syndrome 2 (TMEM216)
- Joubert Syndrome 7 / Meckel Syndrome 5 / COACH Syndrome (RPGRIP1L)
- Junctional Epidermolysis Bullosa (LAMA3-Related) (LAMA3)
- Junctional Epidermolysis Bullosa (LAMB3-Related) (LAMB3)
- Junctional Epidermolysis Bullosa (LAMC2-Related) (LAMC2)
K
- Krabbe Disease (GALC)
L
- Lamellar Ichthyosis, Type 1 (TGM1)
- Leber Congenital Amaurosis 10 and Other CEP290-Related Ciliopathies (CEP290)
- Leber Congenital Amaurosis 13 (RDH12)
- Leber Congenital Amaurosis 2 / Retinitis pigmentosa 20 (RPE65)
- Leber Congenital Amaurosis 5 (LCA5)
- Leber Congenital Amaurosis 8 / Retinitis Pigmentosa 12 / Pigmented Paravenous Chorioretinal Atrophy (CRB1)
- Leigh Syndrome, French-Canadian Type (LRPPRC)
- Lethal Congenital Contracture Syndrome 1 / Lethal Arthrogryposis with Anterior Horn Cell Disease (GLE1)
- Leukoencephalopathy with Vanishing White Matter (EIF2B5)
- Limb-Girdle Muscular Dystrophy, Type 2A (CAPN3)
- Limb-Girdle Muscular Dystrophy, Type 2B (DYSF)
- Limb-Girdle Muscular Dystrophy, Type 2C (SGCG)
- Limb-Girdle Muscular Dystrophy, Type 2D (SGCA)
- Limb-Girdle Muscular Dystrophy, Type 2E (SGCB)
- Limb-Girdle Muscular Dystrophy, Type 2I (FKRP)
- Lipoamide Dehydrogenase Deficiency (DLD)
- Lipoid Adrenal Hyperplasia (STAR)
- Lipoprotein Lipase Deficiency (LPL)
- Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (HADHA)
- Lysinuric Protein Intolerance (SLC7A7)
M
- Maple Syrup Urine Disease, Type 1a (BCKDHA)
- Maple Syrup Urine Disease, Type 1b (BCKDHB)
- Meckel syndrome 1 / Bardet-Biedl Syndrome 13 (MKS1)
- Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM)
- Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC1)
- Menkes Disease (ATP7A)
- Metachromatic Leukodystrophy (ARSA)
- Methylmalonic Acidemia (MMAA-Related) (MMAA)
- Methylmalonic Acidemia (MMAB-Related) (MMAB)
- Methylmalonic Acidemia (MUT-Related) (MUT)
- Methylmalonic Aciduria and Homocystinuria, Cobalamin C Type (MMACHC)
- Methylmalonic Aciduria and Homocystinuria, Cobalamin D Type (MMADHC)
- Microphthalmia / Anophthalmia (VSX2)
- Mitochondrial Complex I Deficiency (ACAD9-Related) (ACAD9)
- Mitochondrial Complex I Deficiency (NDUFAF5-Related) (NDUFAF5)
- Mitochondrial Complex I Deficiency (NDUFS6-Related) (NDUFS6)
- Mitochondrial DNA Depletion Syndrome 6 / Navajo Neurohepatopathy (MPV17)
- Mitochondrial Myopathy and Sideroblastic Anemia 1 (PUS1)
- Mucolipidosis II / IIIA (GNPTAB)
- Mucolipidosis III Gamma (GNPTG)
- Mucolipidosis IV (MCOLN1)
- Mucopolysaccharidosis Type I (IDUA)
- Mucopolysaccharidosis Type II (IDS)
- Mucopolysaccharidosis Type IIIA (SGSH)
- Mucopolysaccharidosis Type IIIB (NAGLU)
- Mucopolysaccharidosis Type IIIC (HGSNAT)
- Mucopolysaccharidosis Type IIID (GNS)
- Mucopolysaccharidosis Type IVb / GM1 Gangliosidosis (GLB1)
- Mucopolysaccharidosis type VI (ARSB)
- Mucopolysaccharidosistype IX (HYAL1)
- Multiple Sulfatase Deficiency (SUMF1)
- Muscle-Eye-Brain Disease and Other POMGNT1-Related Congenital Muscular Dystrophy-Dystroglycanopathies (POMGNT1)
- Myoneurogastrointestinal Encephalopathy (TYMP)
- Myotubular Myopathy 1 (MTM1)
N
- N-Acetylglutamate Synthase Deficiency (NAGS)
- Nemaline Myopathy 2 (NEB)
- Nephrogenic Diabetes Insipidus, Type II (AQP2)
- Nephrotic Syndrome (NPHS1-Related) / Congenital Finnish Nephrosis (NPHS1)
- Nephrotic Syndrome (NPHS2-Related) / Steroid-Resistant Nephrotic Syndrome (NPHS2)
- 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 (MFSD8-Related) (MFSD8)
- Neuronal Ceroid-Lipofuscinosis (PPT1-Related) (PPT1)
- Neuronal Ceroid-Lipofuscinosis (TPP1-Related) (TPP1)
- Niemann-Pick Disease (SMPD1-Related) (SMPD1)
- Niemann-Pick Disease, Type C (NPC1-Related) (NPC1)
- Niemann-Pick Disease, Type C (NPC2-Related) (NPC2)
- Nijmegen Breakage Syndrome (NBN)
- Non-Syndromic Hearing Loss (GJB2-Related) (GJB2)
O
- Odonto-Onycho-Dermal Dysplasia / Schopf-Schulz-Passarge Syndrome (WNT10A)
- Omenn Syndrome (RAG2-Related) (RAG2)
- Omenn Syndrome / Severe Combined Immunodeficiency, Athabaskan-Type (DCLRE1C)
- Ornithine Aminotransferase Deficiency (OAT)
- Ornithine Transcarbamylase Deficiency (OTC)
- Osteopetrosis 1 (TCIRG1)
P
- Pendred Syndrome (SLC26A4)
- Phenylalanine Hydroxylase Deficiency (PAH)
- Polycystic Kidney Disease, Autosomal Recessive (PKHD1)
- Polyglandular Autoimmune Syndrome, Type 1 (AIRE)
- Pontocerebellar Hypoplasia, Type 1A (VRK1)
- Pontocerebellar Hypoplasia, Type 6 (RARS2)
- Primary Carnitine Deficiency (SLC22A5)
- Primary Ciliary Dyskinesia (DNAH5-Related) (DNAH5)
- Primary Ciliary Dyskinesia (DNAI1-Related) (DNAI1)
- Primary Ciliary Dyskinesia (DNAI2-related) (DNAI2)
- Primary Hyperoxaluria, Type 1 (AGXT)
- Primary Hyperoxaluria, Type 2 (GRHPR)
- Primary Hyperoxaluria, Type 3 (HOGA1)
- Progressive Cerebello-Cerebral Atrophy (SEPSECS)
- Progressive Familial Intrahepatic Cholestasis, Type 2 (ABCB11)
- Propionic Acidemia (PCCA-Related) (PCCA)
- Propionic Acidemia (PCCB-Related) (PCCB)
- Pycnodysostosis (CTSK)
- Pyruvate Dehydrogenase E1-Alpha Deficiency (PDHA1)
- Pyruvate Dehydrogenase E1-Beta Deficiency (PDHB)
R
- Renal Tubular Acidosis and Deafness (ATP6V1B1)
- Retinitis Pigmentosa 25 (EYS)
- Retinitis Pigmentosa 26 (CERKL)
- Retinitis Pigmentosa 28 (FAM161A)
- Retinitis Pigmentosa 59 (DHDDS)
- Rhizomelic Chondrodysplasia Punctata, Type 1 (PEX7)
- Rhizomelic Chondrodysplasia Punctata, Type 3 (AGPS)
- Roberts Syndrome (ESCO2)
S
- Salla Disease (SLC17A5)
- Sandhoff Disease (HEXB)
- Schimke Immunoosseous Dysplasia (SMARCAL1)
- Segawa Syndrome (TH)
- Sjogren-Larsson Syndrome (ALDH3A2)
- Smith-Lemli-Opitz Syndrome (DHCR7)
- Spinal Muscular Atrophy (SMN1)
- Spondylothoracic Dysostosis (MESP2)
- Steel Syndrome (COL27A1)
- Stuve-Wiedemann Syndrome (LIFR)
- Sulfate Transporter-Related Osteochondrodysplasia (SLC26A2)
T
- Tay-Sachs Disease (HEXA)
- Tyrosinemia, Type I (FAH)
U
- Usher Syndrome, Type IB (MYO7A)
- Usher Syndrome, Type IC (USH1C)
- Usher Syndrome, Type ID (CDH23)
- Usher Syndrome, Type IF (PCDH15)
- Usher Syndrome, Type IIA (USH2A)
- Usher Syndrome, Type III (CLRN1)
V
- Very Long Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL)
W
- Walker-Warburg Syndrome and Other FKTN-Related Dystrophies (FKTN)
- Wilson Disease (ATP7B)
- Wolman Disease / Cholesteryl Ester Storage Disease (LIPA)
X
- X-Linked Juvenile Retinoschisis (RS1)
- X-Linked Severe Combined Immunodeficiency (IL2RG)
Z
- Zellweger Syndrome Spectrum (PEX1-Related) (PEX1)
- Zellweger Syndrome Spectrum (PEX10-Related) (PEX10)
- Zellweger Syndrome Spectrum (PEX2-Related) (PEX2)
- Zellweger Syndrome Spectrum (PEX6-Related) (PEX6)