carrier screening guide

Carrier Screening Guide Choosing the best panel for your patient

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Comprehensive options to help guide family planningThis guide provides information about all of the diseases and genes covered by Sema4’s carrier screening panels. Sema4 offers a wide range of panels. Testing can be performed for more than 500 genes, a smaller subset of genes, or even just 1 gene. All of our carrier screening technologies are >99% accurate. Proprietary technology is used to identify a patient’s molecular ancestry on a genome-wide level for tailored personalized residual risk.

Expanded Carrier Screen

283 genes

The panel of 283 screens for inherited disorders associated with 283 genes, including many conditions that are prevalent in people of certain ethnic backgrounds. For example, this panel includes a comprehensive Jewish carrier screen for 101 genes.


152 genes

The panel of 152 genes includes 84 genes recommended for expanded carrier screening panels by Stevens, et al.* based on a 2013 position statement from American College of Medical Genetics and Genomics (ACMG) and American College of Obstetricians and Gynecologists (ACOG) Committee Opinion 690. It also includes an additional 53 genes from our comprehensive Jewish carrier screening panel and 15 other genes with a carrier frequency of >1 in 100 in an ethnic subgroup.


39 genes

The panel of 39 genes includes 23 genes highlighted in ACOG Committee Opinion 690: Carrier Screening in the Age of Genomic Medicine. It also includes 16 additional higher-frequency genes associated with conditions such as Duchenne muscular dystrophy, autosomal recessive polycystic kidney disease, and congenital disorder of glycosylation, type 1A.

Comprehensive Jewish Carrier Screen

101 genes

The comprehensive Jewish carrier screen tests for variants in 101 genes associated with genetic diseases found at an increased frequency in the Ashkenazi Jewish (Central and Eastern European), Sephardi Jewish (Southern European and Northern African), and Mizrahi Jewish (Middle Eastern/Arab) populations.

Ashkenazi Jewish Carrier Screen

64 genes

The Ashkenazi Jewish carrier screen tests for variants in 64 genes associated with genetic diseases found at an increased frequency in the Ashkenazi Jewish population. Because of the serious and life-threatening nature of several of these conditions and the lack of available treatment, prevention is the best strategy for combating these diseases. Carrier screening and appropriate genetic counseling can be used to dramatically reduce the incidence of these disorders in the Ashkenazi Jewish population.

*Stevens B, et al. Finding middle ground in constructing a clinically useful expanded carrier screening panel. Obstet Gynecol.2017;130(2):279-284.

Sephardi-Mizrahi Jewish Carrier Screen

54 genes

There are several pathogenic variants that occur at increased frequencies in the Sephardi Jewish (Southern European and Northern African) and Mizrahi Jewish (Middle Eastern/Arab) populations. Our Sephardi-Mizrahi Jewish carrier screen covers 54 genes that fall into this category.

East Asian Carrier Screen

95 genes

This panel includes 95 genes reported to have an increased carrier frequency in the East Asian population, such as USH2A (Usher syndrome, type 2A), SLC12A3 (Gitelman syndrome), and SLC26A4 (Pendred syndrome). Genes with known founder mutations in the East Asian population like，，, SLC25A13 (citrin deficiency), ATP7B (Wilson disease), and GJB2 (non-syndromic hearing loss), are also covered by this panel.

High Frequency Pan-ethnic Panel

11 genes

The high frequency pan-ethnic panel provides carrier screening for the following genetic disorders due to the relatively elevated carrier frequencies and high detection rates in most ethnic groups with severe, early onset clinical presentation.

Standard Pan-ethnic Panel

4 genes

The standard pan-ethnic panel is a basic carrier screening panel that covers cystic fibrosis (CF), fragile X syndrome, Smith-Lemli-Opitz syndrome (SLOS), and spinal muscular atrophy (SMA). This panel was developed based on the recommendations from ACOG Committee Opinion 691: Carrier Screening for Genetic Conditions.

If a customized panel is desired, any subset of the 502 genes included on the Sema4 ElementsTM ECS panel may be selected for testing.

Sema4 ElementsTM Expanded Carrier Screen (ECS) is one of the most comprehensive carrier screens available. The 502 gene panel screens for all genes in the 283 panel, plus 200+ additional genes that provide clinically relevant and actionable information.

NEW Expanded Carrier Screen

502 genes

Detects carrier status for conditions including thrombophilia with Factor II and Factor V deficiency. One or more of these genes may be added to any carrier screening panel.

Optional Add-on Genes

19 genes

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Conditions covered by our panelsConditions covered by our panels

DiseaseExpanded

Carrier Screen (502 genes)


(283 genes)


(152 genes)


(39 genes)

Comprehensive Jewish Carrier

Screen (101 genes)


(64 genes)

Sephardi-Mizrahi Jewish Carrier

Screen (54 genes)


(95 genes)

High Frequency Pan-ethnic Carrier Screen (11 genes)

Standard Pan- ethnic Carrier

Screen (4 genes)


(19 genes)

Abetalipoproteinemia (MTTP)

Achalasia-Addisonianism-Alacrimia Syndrome (AAAS)

Achromatopsia (CNGA3)

Achromatopsia (CNGB3)

Acrodermatitis Enteropathica (SLC39A4)

Acute Infantile Liver Failure (TRMU)

Acyl-CoA Oxidase I Deficiency (ACOX1)

Adams-Oliver Syndrome 4 (EOGT)

Adenosine Deaminase Deficiency (ADA)

Adrenocorticotropic Hormone Deficiency (TBX19)

Adrenoleukodystrophy (X-linked) (ABCD1)

Agammaglobulinemia (X-linked) (BTK)

Agenesis of the Corpus Callosum (FRMD4A)

Aicardi-Goutieres Syndrome (RNASEH2C)

Aicardi-Goutières Syndrome (SAMHD1)

Aicardi-Goutieres Syndrome (TREX1)

Alkaptonuria (HGD)

Alpha-1 Antitrypsin Deficiency (SERPINA1)

Alpha-Mannosidosis (MAN2B1)

Alpha-Thalassemia (HBA1 and HBA2)

Alpha-Thalassemia Mental Retardation Syndrome (X-linked) (ATRX)

Alport Syndrome (COL4A3)

Alport Syndrome (COL4A4)

Alport Syndrome (X-linked) (COL4A5)

Alstrom Syndrome (ALMS1)

Andermann Syndrome (SLC12A6)

Antley-Bixler Syndrome (POR)

A

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Conditions covered by our panels

DiseaseExpanded



(283 genes)


(152 genes)


(39 genes)


Screen (101 genes)


(64 genes)


Screen (54 genes)


(95 genes)



Screen (4 genes)


(19 genes)

Argininemia (ARG1)

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)

Ataxia-Telangiectasia-like Disorder 1 (MRE11)

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (SACS)

Bardet-Biedl Syndrome (ARL6)

Bardet-Biedl Syndrome (BBS1)





Bare Lymphocyte Syndrome, Type II (CIITA)

Barth Syndrome (X-linked) (TAZ)

Bartter Syndrome, Type 3 (CLCNKB)

Bartter Syndrome, Type 4A (BSND)

Bernard-Soulier Syndrome, Type A1 (GP1BA)

Bernard-Soulier Syndrome, Type C (GP9)

3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency (HSD3B2)

Beta-Globin-Related Hemoglobinopathies (HBB)

Beta-Ketothiolase Deficiency (ACAT1)

Beta-Mannosidosis (MANBA)

BH4-Deficient Hyperphenylalaninemia C (QDPR)

BH4-Deficient Hyperphenylalaninemia D (PCBD1)

Bilateral Frontoparietal Polymicrogyria (GPR56)

A - B

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DiseaseExpanded



(283 genes)


(152 genes)


(39 genes)


Screen (101 genes)


(64 genes)


Screen (54 genes)


(95 genes)



Screen (4 genes)


(19 genes)

Biotinidase Deficiency (BTD)

Bloom Syndrome (BLM)

Brachydactyly and other GDF5-related skeletal disorders (GDF5)

Butyrylcholinesterase Deficiency (BCHE)

Canavan Disease (ASPA)

Carbamoylphosphate Synthetase I Deficiency (CPS1)

Carnitine Acylcarnitine Translocase Deficiency (SLC25A20)

Carnitine Palmitoyltransferase IA Deficiency (CPT1A)

Carnitine Palmitoyltransferase II Deficiency (CPT2)

Carpenter Syndrome (RAB23)

Cartilage-Hair Hypoplasia (RMRP)

Catecholaminergic Polymorphic Ventricular Tachycardia (CASQ2)

CD59-mediated Hemolytic Anemia (CD59)

Central Hypothyroidism and Testicular Enlargement (X-linked) (IGSF1)

Cerebral Creatine Deficiency Syndrome 3 (GATM)

Cerebral Creatine Deficiency Syndrome 1 (X-linked) (SLC6A8)

Cerebral Creatine Deficiency Syndrome 2 (GAMT)

Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome (SNAP29)

Cerebrotendinous Xanthomatosis (CYP27A1)

Charcot-Marie-Tooth Disease, Type 4D (NDRG1)

Charcot-Marie-Tooth Disease, Type 5 / Arts Syndrome (X-linked) (PRPS1)

Charcot-Marie-Tooth Disease (X-linked) (GJB1)

Chediak-Higashi Syndrome (LYST)

Chondrodysplasia Punctata (X-linked) (ARSE)

Choreoacanthocytosis (VPS13A)

Choroideremia (X-linked) (CHM)

Chronic Granulomatous Disease (CYBA)

Chronic Granulomatous Disease (X-linked) (CYBB)

B - C

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DiseaseExpanded



(283 genes)


(152 genes)


(39 genes)


Screen (101 genes)


(64 genes)


Screen (54 genes)


(95 genes)



Screen (4 genes)


(19 genes)

Citrin Deficiency (SLC25A13)

Citrullinemia, Type 1 (ASS1)

Cockayne Syndrome, Type A (ERCC8)

Cockayne Syndrome, Type B and Other ERCC6-related Disorders (ERCC6)

Cohen Syndrome (VPS13B)

Combined Factor V and VIII Deficiency (LMAN1)

Combined Malonic and Methylmalonic Aciduria (ACSF3)

Combined Oxidative Phosphorylation Deficiency 1 (GFM1)

Combined Oxidative Phosphorylation Deficiency 3 (TSFM)

Combined Pituitary Hormone Deficiency 1 (POU1F1)

Combined Pituitary Hormone Deficiency 2 (PROP1)

Combined Pituitary Hormone Deficiency 3 (LHX3)

Combined SAP Deficiency (PSAP)

Cone-Rod Dystrophy 6 / Leber Congenital Amaurosis 1 (GUCY2D)

Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxylase Deficiency (CYP11B1)

Congenital Adrenal Hyperplasia due to17-Alpha-Hydroxylase Deficiency (CYP17A1)

Congenital Adrenal Hyperplasia due to 21-Alpha-Hydroxylase Deficiency (CYP21A2)

Congenital Adrenal Hypoplasia (X-linked) (NR0B1)

Congenital Adrenal Insufficiency (CYP11A1)

Congenital Amegakaryocytic Thrombocytopenia (MPL)

Congenital Bile Acid Synthesis Defect (AKR1D1)

Congenital Bile Acid Synthesis Defect (HSD3B7)

Congenital Disorder of Deglycosylation (NGLY1)

Congenital Disorder of Glycosylation, Type Ia (PMM2)

Congenital Disorder of Glycosylation, Type Ib (MPI)

Congenital Disorder of Glycosylation, Type Ic (ALG6)

Congenital Disorder of Glycosylation, Type Im (DOLK)

Congenital Dyserythropoietic Anemia Type 2 (SEC23B)

Congenital Dyserythropoietic Anemia, Type Ia (CDAN1)

C

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DiseaseExpanded



(283 genes)


(152 genes)


(39 genes)


Screen (101 genes)


(64 genes)


Screen (54 genes)


(95 genes)



Screen (4 genes)


(19 genes)

Congenital Ichthyosis 4A and 4B (ABCA12)

Congenital Insensitivity to Pain with Anhidrosis (NTRK1)

Congenital Muscular Dystrophy (LAMA2)

Congenital Myasthenic Syndrome (CHAT)

Congenital Myasthenic Syndrome (CHRNE)

Congenital Myasthenic Syndrome (DOK7)

Congenital Myasthenic Syndrome (RAPSN)

Congenital Neutropenia (HAX1)

Congenital Neutropenia (VPS45)

Congenital Nongoitrous Hypothryoidism 1 (TSHR)

Congenital Nongoitrous Hypothryoidism 4 (TSHB)

Congenital Secretory Chloride Diarrhea 1 (SLC26A3)

Corneal Dystrophy and Perceptive Deafness (SLC4A11)

Corticosterone Methyloxidase Deficiency (CYP11B2)

Crigler-Najjar Syndrome, Types 1 & 2 / Gilbert Syndrome (UGT1A1)

Cystic Fibrosis (CFTR)

Cystinosis (CTNS)

Cystinuria (SLC3A1)

Cytochrome C Oxidase Deficiency / Leigh Syndrome (COX15)

D-Bifunctional Protein Deficiency (HSD17B4)

Deafness, Autosomal Recessive 3 (MYO15A)

Deafness, Autosomal Recessive 59 (PJVK)

Deafness, Autosomal Recessive 7 (TMC1)

Deafness, Autosomal Recessive 76 (SYNE4)

Deafness, Autosomal Recessive 77 (LOXHD1)

Deafness, Autosomal Recessive 8/10 (TMPRSS3)

Deafness, Autosomal Recessive 9 (OTOF)

Desbuquois Dysplasia 1 (CANT1)

Desmosterolosis (DHCR24)

C - D

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Conditions covered by our panelsDisease


(502 genes)


(283 genes)


(152 genes)


(39 genes)


Screen (101 genes)


(64 genes)


Screen (54 genes)


(95 genes)



Screen (4 genes)


(19 genes)

Diaphanospondylodysostosis (BMPER)

Dihydropyrimidine Dehydrogenase Deficiency / 5-Fluorouracil Toxicity (DPYD)

Distal Renal Tubular Acidosis and Other SLC4A1-related Disorders (SLC4A1)

Duchenne Muscular Dystrophy / Becker Muscular Dystrophy (X-linked) (DMD)

Dyskeratosis Congenita (RTEL1)

Dyskeratosis Congenita (X-linked) (DKC1)

Dystrophic Epidermolysis Bullosa (COL7A1)

Ehlers-Danlos Syndrome, Type VI (PLOD1)

Ehlers-Danlos Syndrome, Type VIIC (ADAMTS2)

Ellis-van Creveld Syndrome (EVC2)

Ellis-van Creveld Syndrome (EVC)

Emery-Dreifuss Myopathy 1 (X-linked) (EMD)

Enhanced S-Cone Syndrome (NR2E3)

Ethylmalonic Encephalopathy (ETHE1)

Fabry Disease (X-linked) (GLA)

Factor IX Deficiency (X-linked) (F9)

Factor V Deficiency and Thrombophilia Due to Activated Protein C Resistance (F5)

Factor VII Deficiency (F7)

Factor XI Deficiency (F11)

Familial Autosomal Recessive Hypercholesterolemia (LDLRAP1)

Familial Dysautonomia (IKBKAP)

Familial Hypercholesterolemia (LDLR)

Familial Hyperinsulinemic Hypoglycemia 4 / 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (HADH)

Familial Hyperinsulinism (ABCC8)

Familial Hyperinsulinism (KCNJ11)

Familial Hyperphosphatemic Tumoral Calcinosis (GALNT3)

Familial Mediterranean Fever (MEFV)

Fanconi Anemia, Group A (FANCA)

Fanconi Anemia, Group C (FANCC)

Fanconi Anemia, Group G (FANCG)

D - F

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Conditions covered by our panels F - G

DiseaseExpanded



(283 genes)


(152 genes)


(39 genes)


Screen (101 genes)


(64 genes)


Screen (54 genes)


(95 genes)



Screen (4 genes)


(19 genes)

Fanconi-Bickel Syndrome (SLC2A2)

Fragile X Syndrome (X-linked) (FMR1)*

Fructose-1,6-Bisphosphatase Deficiency (FBP1)

Fucosidosis (FUCA1)

Fumarase Deficiency (FH)

Fundus Albipunctatus (RDH5)

Galactokinase Deficiency (GALK1)

Galactose Epimerase Deficiency (GALE)

Galactosemia (GALT)

Galactosialidosis (CTSA)

Gaucher Disease (GBA)

Generalized Thyrotropin-releasing Hormone Resistance (TRHR)

Geroderma Osteodysplasticum (GORAB)

Gitelman Syndrome (SLC12A3)

Glanzmann Thrombasthenia (ITGA2B)

Glanzmann Thrombasthenia (ITGB3)

Glutaric Acidemia, Type I (GCDH)

Glutaric Acidemia, Type IIa (ETFA)

Glutaric Acidemia, Type IIb (ETFB)

Glutaric Acidemia, Type IIc (ETFDH)

Glutathione Synthetase Deficiency (GSS)

Glycine Encephalopathy (AMT)

Glycine Encephalopathy (GLDC)

Glycogen Storage Disease, Type 0 (GYS2)

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)

*Includes auto-reflex AGG interruption analysis for Fragile X premutation carriers (55-90 CGG repeats) to identify risk of expansion.

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DiseaseExpanded



(283 genes)


(152 genes)


(39 genes)


Screen (101 genes)


(64 genes)


Screen (54 genes)


(95 genes)



Screen (4 genes)


(19 genes)

Glycogen Storage Disease, Type IXb (PHKB)

Glycogen Storage Disease, Type V (PYGM)

Glycogen Storage Disease, Type VI (PYGL)

Glycogen Storage Disease, Type VII (PFKM)

GRACILE Syndrome and Other BCS1L-Related Disorders (BCS1L)

Gray Platelet Syndrome (NBEAL2)

Growth Hormone Deficiency, Type IB (GHRHR)

Hemochromatosis, type 1 (HFE)

Hemochromatosis, Type 2A (HFE2)

Hemochromatosis, Type 3 (TFR2)

Hemolytic Anemia (X-linked) (G6PD)

Hereditary Fructose Intolerance (ALDOB)

Hereditary Spastic Paraparesis 49 (TECPR2)

Hermansky-Pudlak Syndrome, Type 1 (HPS1)




HMG-CoA Lyase Deficiency (HMGCL)

HMG-CoA Synthase 2 Deficiency (HMGCS2)

Holocarboxylase Synthetase Deficiency (HLCS)

Homocystinuria (CBS)

Homocystinuria Due to MTHFR Deficiency (MTHFR)*

Homocystinuria, cblE Type (MTRR)

Homocystinuria-Megaloblastic Anemia, Cobalamin G Type (MTR)

Hydrocephalus (X-linked) (L1CAM)

Hydrolethalus Syndrome (HYLS1)

Hyper-IgM Syndrome (X-linked) (CD40LG)

Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome (SLC25A15)

Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis (SARS2)

G - H

*Pathogenic/likely pathogenic variants in the MTHFR gene are reported only for homocystinuria on applicable carrier screening panels. The common MTHFR variant for thrombophilia, c.665C>T, will only be reported when MTHFR is selected as an optional add-on gene.

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DiseaseExpanded



(283 genes)


(152 genes)


(39 genes)


Screen (101 genes)


(64 genes)


Screen (54 genes)


(95 genes)



Screen (4 genes)


(19 genes)

Hypohidrotic Ectodermal Dysplasia 1 (X-linked) (EDA)

Hypomagnesemia 1 (TRPM6)

Hypomyelinating Leukodystrophy 3 (AIMP1)

Hypomyelinating Leukodystrophy 12 (VPS11)

Hypoparathyroidism-Retardation-Dysmorphic Syndrome (TBCE)

Hypophosphatasia (ALPL)

Hypophosphatemic Rickets with Hypercalciuria (SLC34A3)

Hypotrichosis 8 / Autosomal Recessive Woolly Hair 1 (LPAR6)

Immunodeficiency 18 (CD3E)

Immunodeficiency 19 (CD3D)

Inclusion Body Myopathy 2 (GNE)

Infantile Cerebral and Cerebellar Atrophy (MED17)

Infantile Neuroaxonal Dystrophy 1 and Other PLA2G6-related Disorders (PLA2G6)

Intrahepatic Cholestasis (ATP8B1)

Isovaleric Acidemia (IVD)

Joubert Syndrome 2 (TMEM216)

Joubert Syndrome 4 / Senior-Loken Syndrome 1 / Juvenile Nephronophthisis 1 (NPHP1)

Joubert Syndrome 7 / Meckel Syndrome 5 / COACH Syndrome (RPGRIP1L)

Junctional Epidermolysis Bullosa (COL17A1)

Junctional Epidermolysis Bullosa (ITGA6)

Junctional Epidermolysis Bullosa (ITGB4)

Junctional Epidermolysis Bullosa (LAMA3)

Junctional Epidermolysis Bullosa (LAMB3)

Junctional Epidermolysis Bullosa (LAMC2)

Kohlschutter-Tonz Syndrome (ROGDI)

Krabbe Disease (GALC)

Lamellar Ichthyosis, Type 1 (TGM1)

Laron Dwarfism (GHR)

Leber Congenital Amaurosis 10 and Other CEP290-Related Ciliopathies (CEP290)

H - L

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DiseaseExpanded



(283 genes)


(152 genes)


(39 genes)


Screen (101 genes)


(64 genes)


Screen (54 genes)


(95 genes)



Screen (4 genes)


(19 genes)

Leber Congenital Amaurosis 13 (RDH12)

Leber Congenital Amaurosis 15 / Retinitis Pigmentosa 14 (TULP1)

Leber Congenital Amaurosis 2 / Retinitis Pigmentosa 20 (RPE65)

Leber Congenital Amaurosis 4 (AIPL1)

Leber Congenital Amaurosis 5 (LCA5)

Leber Congenital Amaurosis 8 / Retinitis Pigmentosa 12 / Pigmented Paravenous Chorioretinal Atrophy (CRB1)

Leigh Syndrome (NDUFS7)

Leigh Syndrome (SURF1)

Leigh Syndrome, French-Canadian Type (LRPPRC)

Lethal Congenital Contracture Syndrome 1 / Lethal Arthrogryposis with Anterior Horn Cell Disease (GLE1)

Lethal Congenital Contracture Syndrome 2 (ERBB3)

Lethal Congenital Contracture Syndrome 3 (PIP5K1C)

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 2F (SGCD)

Limb-Girdle Muscular Dystrophy, Type 2H (TRIM32)

Limb-Girdle Muscular Dystrophy, Type 2I (FKRP)

Limb-Girdle Muscular Dystrophy, Type 2L (ANO5)

Lipoamide Dehydrogenase Deficiency (DLD)

Lipoid Adrenal Hyperplasia (STAR)

Lipoprotein Lipase Deficiency (LPL)

Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (HADHA)

Lowe Syndrome (X-linked) (OCRL)

Lysinuric Protein Intolerance (SLC7A7)

Male Precocious Puberty and Other LHCGR-related Disorders (LHCGR)

L - M

24 25


DiseaseExpanded



(283 genes)


(152 genes)


(39 genes)


Screen (101 genes)


(64 genes)


Screen (54 genes)


(95 genes)



Screen (4 genes)


(19 genes)

Male Pseudohermaphroditism with Gynecomastia (HSD17B3)

Malignant Hyperthermia and Other RYR1-related Myopathies (RYR1)

Malonyl-CoA Decarboxylase Deficiency (MLYCD)

Maple Syrup Urine Disease, Type 1a (BCKDHA)

Maple Syrup Urine Disease, Type 1b (BCKDHB)

Maple Syrup Urine Disease, Type 2 (DBT)

Meckel-Gruber Syndrome 1 / Bardet-Biedl Syndrome 13 (MKS1)

Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM)

MEDNIK Syndrome (AP1S1)

Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC1)

Megaloblastic Anemia 1 (AMN)

Menkes Disease (X-linked) (ATP7A)

Mental Retardation, Autosomal Recessive 3 (CC2D1A)

Metachromatic Leukodystrophy (ARSA)

Methionine Adenosyltransferase I/III Deficiency (MAT1A)

2-Methylbutyrylglycinuria (ACADSB)

3-Methylcrotonyl-CoA Carboxylase Deficiency (MCCC1)

3-Methylcrotonyl-CoA Carboxylase Deficiency (MCCC2)

3-Methylglutaconic Aciduria, Type III / Optic Atrophy 3, with Cataract (OPA3)

Methylmalonic Acidemia (MMAA)

Methylmalonic Acidemia (MMAB)

Methylmalonic Acidemia (MUT)

Methylmalonic Aciduria and Homocystinuria, Cobalamin C Type (MMACHC)

Methylmalonic Aciduria and Homocystinuria, Cobalamin D Type (MMADHC)

Methylmalonic Aciduria and Homocystinuria, Cobalamin F Type (LMBRD1)

Methylmalonyl-CoA Epimerase Deficiency (MCEE)

Microphthalmia / Anophthalmia (VSX2)

Mitochondrial Complex I Deficiency (ACAD9)

Mitochondrial Complex I Deficiency (NDUFA11)

M

26 27


DiseaseExpanded



(283 genes)


(152 genes)


(39 genes)


Screen (101 genes)


(64 genes)


Screen (54 genes)


(95 genes)



Screen (4 genes)


(19 genes)

Mitochondrial Complex I Deficiency (NDUFAF5)

Mitochondrial Complex I Deficiency (NDUFS6)

Mitochondrial Complex I Deficiency (NDUFV1)

Mitochondrial Complex I Deficiency / Leigh Syndrome (FOXRED1)

Mitochondrial Complex I Deficiency / Leigh Syndrome (NDUFAF2)

Mitochondrial Complex I Deficiency / Leigh Syndrome (NDUFS4)

Mitochondrial Complex IV Deficiency (COX20)

Mitochondrial Complex IV Deficiency (COX6B1)

Mitochondrial Complex IV Deficiency (APOPT1)

Mitochondrial Complex IV Deficiency (PET100)

Mitochondrial Complex IV Deficiency (SCO1)

Mitochondrial Complex IV Deficiency / Leigh Syndrome (COX10)

Mitochondrial DNA Depletion Syndrome 2 (TK2)

Mitochondrial DNA Depletion Syndrome 3 (DGUOK)

Mitochondrial DNA Depletion Syndrome 4A and 4B and Other POLG-related Disorders (POLG)

Mitochondrial DNA Depletion Syndrome 5 (SUCLA2)

Mitochondrial DNA Depletion Syndrome 6 / Navajo Neurohepatopathy (MPV17)

Mitochondrial Myopathy and Sideroblastic Anemia 1 (PUS1)

Mitochondrial Trifunctional Protein Deficiency (HADHB)

Molybdenum Cofactor Deficiency A (MOCS1)

Mucolipidosis II / IIIA (GNPTAB)

Mucolipidosis III Gamma (GNPTG)

Mucolipidosis IV (MCOLN1)

Mucopolysaccharidosis Type I (IDUA)

Mucopolysaccharidosis Type II (X-linked) (IDS)

Mucopolysaccharidosis Type IIIA (SGSH)

Mucopolysaccharidosis Type IIIB (NAGLU)

Mucopolysaccharidosis Type IIIC (HGSNAT)

Mucopolysaccharidosis Type IIID (GNS)

M

28 29


DiseaseExpanded



(283 genes)


(152 genes)


(39 genes)


Screen (101 genes)


(64 genes)


Screen (54 genes)


(95 genes)



Screen (4 genes)


(19 genes)

Mucopolysaccharidosis Type IVa (GALNS)

Mucopolysaccharidosis Type IVb / GM1 Gangliosidosis (GLB1)

Mucopolysaccharidosis Type VI (ARSB)

Mucopolysaccharidosis VII (GUSB)

Mucopolysaccharidosis Type IX (HYAL1)

Mulibrey Nanism (TRIM37)

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 (PIGN)

Multiple Pterygium Syndrome (CHRNG)

Multiple Sulfatase Deficiency (SUMF1)

Muscle-Eye-Brain Disease and Other POMGNT1-Related Congenital Muscular Dystrophy-Dystroglycanopathies (POMGNT1)

Myoneurogastrointestinal Encephalopathy (TYMP)

Myotubular Myopathy 1 (X-linked) (MTM1)

N-Acetylglutamate Synthase Deficiency (NAGS)

Nemaline Myopathy 2 (NEB)

Nephrogenic Diabetes Insipidus / Nephrogenic Syndrome (X-linked) (AVPR2)

Nephrogenic Diabetes Insipidus, Type II (AQP2)

Nephronophthisis 2 (INVS)

Nephrotic Syndrome / Congenital Finnish Nephrosis (NPHS1)

Nephrotic Syndrome / Steroid-Resistant Nephrotic Syndrome (NPHS2)

Neurodegeneration Due to Cerebral Folate Transport Deficiency (FOLR1)

Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies (PLAA)

Neuronal Ceroid-Lipofuscinosis (CLN3)




Neuronal Ceroid-Lipofuscinosis (MFSD8)

Neuronal Ceroid-Lipofuscinosis (PPT1)

Neuronal Ceroid-Lipofuscinosis (TPP1)

Niemann-Pick Disease, Type A/B (SMPD1)

Niemann-Pick Disease, Type C (NPC1)

M - N

30 31


DiseaseExpanded



(283 genes)


(152 genes)


(39 genes)


Screen (101 genes)


(64 genes)


Screen (54 genes)


(95 genes)



Screen (4 genes)


(19 genes)

Niemann-Pick Disease, Type C (NPC2)

Nijmegen Breakage Syndrome (NBN)

Non-Syndromic Hearing Loss (GJB2)

Oculocutaneous Albinism, Type III (TYRP1)

Oculocutaneous Albinism, Type IA / IB (TYR)

Oculocutaneous Albinism, Type IV (SLC45A2)

Odonto-Onycho-Dermal Dysplasia / Schopf-Schulz-Passarge Syndrome (WNT10A)

Omenn Syndrome (RAG2)

Omenn Syndrome / Severe Combined Immunodeficiency, Athabaskan-Type (DCLRE1C)

Omenn Syndrome and Other RAG1-related Disorders (RAG1)

Ornithine Aminotransferase Deficiency (OAT)

Ornithine Transcarbomylase Deficiency (X-linked) (OTC)

Osteogenesis Imperfecta, Type XI (FKBP10)

Osteopetrosis 1 (TCIRG1)

Osteopetrosis 8 (SNX10)

Otospondylomegaepiphyseal Dysplasia / Deafness / Fibrochondrogenesis 2 (COL11A2)

Papillon-Lefevre Syndrome (CTSC)

Pendred Syndrome (SLC26A4)

Peroxisome Biogenesis Disorder 3A and 3B (PEX12)

Peroxisome Biogenesis Disorder 7A and 7B (PEX26)

Persistent Mullerian Duct Syndrome, Type I (AMH)

Persistent Mullerian Duct Syndrome, Type II (AMHR2)

Phenylalanine Hydroxylase Deficiency (PAH)

3-Phosphoglycerate Dehydrogenase Deficiency (PHGDH)

Polycystic Kidney Disease, Autosomal Recessive (PKHD1)

Polyglandular Autoimmune Syndrome, Type 1 (AIRE)

Pontocerebellar Hypoplasia, Type 1A (VRK1)

Pontocerebellar Hypoplasia, Type 1B (EXOSC3)

Pontocerebellar Hypoplasia, Type 2A and Type 4 (TSEN54)

N - P

32 33


DiseaseExpanded



(283 genes)


(152 genes)


(39 genes)


Screen (101 genes)


(64 genes)


Screen (54 genes)


(95 genes)



Screen (4 genes)


(19 genes)

Pontocerebellar Hypoplasia, Type 2E (VPS53)

Pontocerebellar Hypoplasia, Type 6 (RARS2)

Primary Carnitine Deficiency (SLC22A5)

Primary Ciliary Dyskinesia (CCDC103)



Primary Ciliary Dyskinesia (DNAH5)

Primary Ciliary Dyskinesia (DNAI1)

Primary Ciliary Dyskinesia (DNAI2)

Primary Ciliary Dyskinesia (RSPH9)

Primary Coenzyme Q10 Deficiency 7 (COQ4)

Primary Congenital Glaucoma (CYP1B1)

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)

Progressive Myoclonic Epilepsy, Type 1B (PRICKLE1)

Progressive Pseudorheumatoid Dysplasia (WISP3)

Prolidase Deficiency (PEPD)

Propionic Acidemia (PCCA)

Propionic Acidemia (PCCB)

Pseudovaginal Perineoscrotal Hypospadias (SRD5A2)

Pulmonary Surfactant Dysfunction (ABCA3)

Pycnodysostosis (CTSK)

Pyridoxamine 5’-Phosphate Oxidase Deficiency (PNPO)

Pyridoxine-Dependent Epilepsy (ALDH7A1)

Pyruvate Carboxylase Deficiency (PC)

Pyruvate Dehydrogenase E1-Alpha Deficiency (X-linked) (PDHA1)

P

34 35


DiseaseExpanded



(283 genes)


(152 genes)


(39 genes)


Screen (101 genes)


(64 genes)


Screen (54 genes)


(95 genes)



Screen (4 genes)


(19 genes)

Pyruvate Dehydrogenase E1-Beta Deficiency (PDHB)

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency (PTS)

Renal Tubular Acidosis and Deafness (ATP6V1B1)

Retinitis Pigmentosa 25 (EYS)

Retinitis Pigmentosa 26 (CERKL)

Retinitis Pigmentosa 28 (FAM161A)

Retinitis Pigmentosa 36 (PRCD)

Retinitis Pigmentosa 59 (DHDDS)

Retinitis Pigmentosa 64 / Bardet-Biedl Syndrome 21 / Cone-rod Dystrophy 16 (C8ORF37)

Retinitis Punctata Albescens and Other RLBP1-related Ocular Disorders (RLBP1)

Rh Deficiency Syndrome (RHAG)

Rhizomelic Chondrodysplasia Punctata, Type 1 (PEX7)

Rhizomelic Chondrodysplasia Punctata, Type 3 (AGPS)

Roberts Syndrome (ESCO2)

Salla Disease (SLC17A5)

Salt and Pepper Developmental Regression Syndrome (ST3GAL5)

Sandhoff Disease (HEXB)

Schimke Immunoosseous Dysplasia (SMARCAL1)

Seckel Syndrome 5 / Microcephaly 9 (CEP152)

Segawa Syndrome (TH)

Sepiapterin Reductase Deficiency (SPR)

Severe Combined Immunodeficiency (IL7R)

Severe Combined Immunodeficiency (JAK3)

Severe Combined Immunodeficiency (PTPRC)

Severe Congenital Neutropenia 4 (G6PC3)

Severe Neonatal Hyperparathyroidism (CASR)

Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis (POC1A)

Short-chain Acyl-CoA Dehydrogenase Deficiency (ACADS)

Shwachman-Diamond Syndrome (SBDS)

P - S

36 37


DiseaseExpanded



(283 genes)


(152 genes)


(39 genes)


Screen (101 genes)


(64 genes)


Screen (54 genes)


(95 genes)



Screen (4 genes)


(19 genes)

Sialidosis, Type I and Type II (NEU1)

Sjogren-Larsson Syndrome (ALDH3A2)

Smith-Lemli-Opitz Syndrome (DHCR7)

Spastic Paraplegia 15 (ZFYVE26)

Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SLC1A4)

Spherocytosis, Type 5 (EPB42)

Spinal Muscular Atrophy (Includes Enhanced SMA Testing) (SMN1)*

Spinal Muscular Atrophy with Respiratory Distress 1 / Charcot-Marie-Tooth Disease, Type 2 (IGHMBP2)

Spinocerebellar Ataxia with Axonal Neuropathy 3 (COA7)

Spondylocostal Dysostosis 1 (DLL3)

Spondylometaepiphyseal Dysplasia (DDR2)

Spondylothoracic Dysostosis (MESP2)

Stargardt Disease and Other ABCA4-related Ocular Disorders (ABCA4)

Steel Syndrome (COL27A1)

Stuve-Wiedemann Syndrome (LIFR)

Sulfate Transporter-Related Osteochondrodysplasia (SLC26A2)

Tay-Sachs Disease (HEXA)

Thiamine-Responsive Megaloblastic Anemia Syndrome (SLC19A2)

Thrombophilia Due to Thrombin Defect and Congenital Prothrombin Deficiency (F2)

Thyroid Dyshormonogenesis 1 (SLC5A5)

Thyroid Dyshormonogenesis 2A (TPO)

Thyroid Dyshormonogenesis 3 (TG)

Thyroid Dyshormonogenesis 4 (IYD)

Thyroid Dyshormonogenesis 5 (DUOXA2)

Thyroid Dyshormonogenesis 6 (DUOX2)

Trichohepatoenteric Syndrome 1 (TTC37)

Tyrosinemia, Type I (FAH)

Tyrosinemia, Type II (TAT)

S - T

*Includes SNP genotyping (g.27134T>G) for enhanced detection of silent carriers and adjustment of residual risk.

38 39


DiseaseExpanded



(283 genes)


(152 genes)


(39 genes)


Screen (101 genes)


(64 genes)


Screen (54 genes)


(95 genes)



Screen (4 genes)


(19 genes)

Tyrosinemia, Type III / Hawkinsinuria (HPD)

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)

Very Long Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL)

Vitamin D-Dependent Rickets, Type I (CYP27B1)

Vitamin D-Resistant Rickets, Type IIA (VDR)

Von Willebrand Disease (VWF)

Walker-Warburg Syndrome and Other FKTN-Related Dystrophies (FKTN)

Werner Syndrome (WRN)

Wilson Disease (ATP7B)

Wiskott-Aldrich Syndrome (X-linked) (WAS)

Wolcott-Rallison Syndrome (EIF2AK3)

Wolman Disease / Cholesteryl Ester Storage Disease (LIPA)

Woodhouse-Sakati Syndrome (DCAF17)

Xeroderma Pigmentosum (POLH)

Xeroderma Pigmentosum, Group A (XPA)

Xeroderma Pigmentosum, Group C (XPC)

Xeroderma Pigmentosum, Group G (ERCC5)

X-Linked Juvenile Retinoschisis (RS1)

X-Linked Severe Combined Immunodeficiency (IL2RG)

Zellweger Syndrome Spectrum (PEX10)




T - Z

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