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What is Carrier Screening?

Carrier screening is a genetic test used to evaluate if a person is a carrier of a genetic condition. Focusing primarily on early onset, severe disorders that follow either autosomal recessive or X-linked recessive modes of inheritance, carrier screening aims to detect couples who are at risk of passing down these genetic conditions to their children.

Autosomal Recessive Genetic Conditions

Genetic Carrier Screening - PsiGenex - Autosomal_Recessive_Genetic_Conditions

X-linked Recessive Genetic Conditions

Genetic Carrier Screening - PsiGenex - X-linked_Recessive_Genetic_Conditions

PsiGenex's Approach:

At PsiGenex we are revolutionizing reproductive health and transforming the approach to carrier screening.

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Carrier Screening Today

Carrier screening was traditionally targeted testing for specific genetic disorders, based on an individual’s ethnicity or family history. However, this limited approach may fail to identify couples at risk of passing down genetic disorders. A more suitable approach for today’s society is comprehensive screening which adopts a more wide-ranging strategy by including more genes and variants, regardless of family history or ethnicity.

Comprehensive Screening

  • Screens for hundreds of disorders simultaneously
  • Offered to everyone regardless of family history or ethnicity
  • Self-reporting is not required, eliminating incorrect panel selection
  • Increases carrier detection rates to capture the highest amount of at-risk individuals

Targeted Screening

  • Selective testing for a small group of disorders
  • Offered based on family history or ethnicity
  • Self-reported information is required
  • Limited so can miss up to 70% of carriers

 

Advantages of Early Screening

Genetic Carrier Screening - PsiGenex - 1iconnegative

Negative results give reassurance that their children will not be at significant risk of inheriting the disorders screened for.

Genetic Carrier Screening - PsiGenex - 1iconpositive

Positive results provide reliable condition-specific information about genetic risks to help guide reproductive decisions.

  • Allows time to access pre-conception reproductive options, such as in vitro fertilization (IVF) with preimplantation genetic testing (PGT), sperm or egg donation, or adoption.
  • Gives the opportunity for early prenatal diagnosis.

Carrier Screening Panels at PsiGenex

Comprehensive Carrier Screening Panel

Screens for all 431 pertinent genetic disorders that cause a wide range of severe medical and intellectual symptoms. Panel covers common mutations in 421 genes, as well as those that are more rare, making it the screening option that gives patients the most comprehensive risk assessment.

See Full List of Disorders
  • 17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency
  • 3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency
  • 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency
  • 3-Methylcrotonyl-CoA Carboxylase 1 Deficiency
  • 3-Methylcrotonyl-CoA Carboxylase 2 Deficiency
  • 5-alpha reductase deficiency
  • 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency
  • Abetalipoproteinemia
  • Achondrogenesis, Type 1B
  • Achromatopsia, CNGA3-Related
  • Achromatopsia, CNGB3-Related
  • Acrodermatitis Enteropathica
  • Acute Infantile Liver Failure, TRMU-Related
  • Acyl-CoA Oxidase I Deficiency
  • Adrenoleukodystrophy, X-Linked
  • Agenesis of the Corpus Callosum with Peripheral Neuropathy (Andermann Syndrome)
  • Aicardi-Goutieres Syndrome
  • Aicardi-Goutieres Syndrome, RNASEH2C-Related
  • Aicardi-Goutieres Syndrome, TREX1-Related
  • Alkaptonuria
  • Alpha-1-Antitrypsin Deficiency
  • Alpha-Mannosidosis
  • Alpha-Thalassemia
  • Alpha-Thalassemia Intellectual Disability Syndrome, X-Linked
  • Alport Syndrome, COL4A3-Related
  • Alport Syndrome, COL4A4-Related
  • Alport Syndrome, X-Linked
  • Alstrom Syndrome
  • Androgen Insensitivity Syndrome, X-Linked
  • Argininemia
  • Argininosuccinate Lyase Deficiency
  • Aromatase Deficiency
  • Arts Syndrome, X-Linked
  • Asparagine Synthetase Deficiency
  • Aspartylglucosaminuria
  • Ataxia with Vitamin E Deficiency
  • Ataxia-Telangiectasia
  • Ataxia-Telangiectasia-Like Disorder 1
  • Autism Spectrum, Epilepsy and Arthrogryposis
  • Autoimmune Polyendocrinopathy Syndrome, Type I
  • Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
  • Bardet-Biedl Syndrome 1
  • Bardet-Biedl Syndrome 10
  • Bardet-Biedl syndrome 11
  • Bardet-Biedl Syndrome 12
  • Bardet-Biedl Syndrome 2
  • Bardet-Biedl Syndrome 4
  • Bardet-Biedl Syndrome 6
  • Bardet-Biedl Syndrome 9
  • Bare Lymphocyte Syndrome, CIITA-Related
  • Bartter Syndrome, Type 4a
  • Bernard-Soulier Syndrome, Type A2
  • Bernard-Soulier Syndrome, Type B
  • Bernard-Soulier Syndrome, Type C
  • Beta-Hemoglobinopathies - Sickle Cell Anemia and Beta Thalassemia
  • Beta-Ketothiolase Deficiency
  • Beta-Ureidopropionase Deficiency
  • Bilateral Frontoparietal Polymicrogyria
  • Biotinidase Deficiency
  • Bloom Syndrome
  • Canavan Disease
  • Carbamoyl Phosphate Synthetase I Deficiency
  • Carnitine Deficiency
  • Carnitine Palmitoyltransferase IA Deficiency
  • Carnitine Palmitoyltransferase II Deficiency
  • Carnitine-Acylcarnitine Translocase Deficiency
  • Carpenter Syndrome
  • Cartilage-Hair Hypoplasia
  • Catecholaminergic Polymorphic Ventricular Tachycardia
  • Cerebrotendinous Xanthomatosis
  • Ceroid Lipofuscinosis, Neuronal, 1
  • Ceroid Lipofuscinosis, Neuronal, 10 (CLN10 Disease)
  • Ceroid Lipofuscinosis, Neuronal, 2
  • Ceroid Lipofuscinosis, Neuronal, 3
  • Ceroid Lipofuscinosis, Neuronal, 5
  • Ceroid Lipofuscinosis, Neuronal, 6
  • Ceroid Lipofuscinosis, Neuronal, 7
  • Ceroid Lipofuscinosis, Neuronal, 8 (a.ka. Northern Epilepsy)
  • Charcot-Marie-Tooth Disease Type 4D
  • Charcot-Marie-Tooth Disease with Deafness, X-Linked
  • Chediak-Higashi Syndrome
  • Choreo-Acanthocytosis
  • Choroideremia, X-Linked
  • Chronic Granulomatous Disease, CYBA-Related
  • Chronic Granulomatous Disease, X-Linked
  • Ciliary Dyskinesia, Primary 1
  • Ciliary Dyskinesia, Primary 3
  • Ciliary Dyskinesia, Primary 9
  • Ciliary Dyskinesia, Primary, 16
  • Ciliopathies, RPGRIP1L-Related
  • Citrullinemia, Type 1
  • Citrullinemia, Type II
  • Cockayne Syndrome, Type A
  • Cockayne Syndrome, Type B
  • Cohen Syndrome
  • Combined Malonic and Methylmalonic Aciduria
  • Combined Oxidative Phosphorylation Deficiency 1
  • Combined Oxidative Phosphorylation Deficiency 3
  • Combined Pituitary Hormone Deficiency 2
  • Congenital Adrenal Hyperplasia, 11-Beta-Hydroxylase-Deficient
  • Congenital Adrenal Hyperplasia, 17-Alpha-Hydroxylase Deficiency
  • Congenital Adrenal Hyperplasia, 21-hydroxylase-Deficient
  • Congenital Adrenal Hypoplasia, X-Linked
  • Congenital Amegakaryocytic Thrombocytopenia
  • Congenital Chloride Diarrhea
  • Congenital Disorder of Glycosylation, Type 1A, PMM2-Related
  • Congenital Disorder of Glycosylation, Type 1B
  • Congenital Disorder of Glycosylation, Type 1C
  • Congenital Finnish Nephrosis
  • Congenital Hyperinsulinism, KCNJ11-Related
  • Congenital Hypothyroidism
  • Congenital Hypothyroidism
  • Congenital Insensitivity to Pain with Anhidrosis (CIPA)
  • Congenital Myasthenic Syndrome, CHRNE-Related
  • Congenital Myasthenic Syndrome, DOK7-Related
  • Congenital Myasthenic Syndrome, RAPSN-Related
  • Congenital Neutropenia, HAX1-Related
  • Congenital Neutropenia, VPS45-Related
  • Corneal Dystrophy and Perceptive Deafness
  • Corticosterone Methyloxidase Deficiency
  • Costeff Syndrome (3-Methylglutaconic Aciduria, Type 3)
  • Creatine Transporter Defect (Cerebral Creatine Deficiency Syndrome 1, X-Linked)
  • Crigler-Najjar Syndrome
  • Cystic Fibrosis
  • Cystinosis
  • Cystinuria, Type A
  • Cystinuria, Type B
  • Cytochrome P450 Oxidoreductase Deficiency
  • Cytochrome-Coxidase Deficiency
  • D-Bifunctional Protein Deficiency
  • Deafness, Autosomal Dominant 36, Autosomal Recessive 7
  • Deafness, Autosomal Recessive 16
  • Deafness, Autosomal Recessive 77
  • Deafness, Autosomal Recessive, 3
  • Desbuquois Dysplasia 1
  • Dihydrolipoamide Dehydrogenase Deficiency
  • Dihydropyrimidine Dehydrogenase Deficiency
  • Dopa-Responsive Dystonia
  • Duchenne/Becker Muscular Dystrophy
  • Dysautonomia, Familial (IKBKAP or ELP1)
  • Dyskeratosis Congenita, RTEL1-Related
  • Dyskeratosis Congenita, X-Linked
  • Dystrophic Epidermolysis Bullosa, COL7A1-Related
  • Ehlers-Danlos Syndrome, Type VIIC
  • Ellis-Van Creveld Syndrome, EVC2-Related
  • Ellis-Van Creveld Syndrome, EVC-Related
  • Emery-Dreifuss Muscular Dystrophy 1, X-Linked
  • Enhanced S-Cone Syndrome
  • Erythrokeratodermia Variabilis et Progressiva
  • Escobar Syndrome
  • Ethylmalonic Encephalopathy
  • Fabry Disease
  • Factor XI Deficiency
  • Familial Dilated Cardiomyopathy
  • Familial Hypercholesterolemia, LDLRAP1-Related
  • Familial Hypercholesterolemia, LDLR-Related
  • Familial Hyperinsulinism, ABCC8-Related
  • Familial Mediterranean Fever
  • Familial Nephrogenic Diabetes Insipidus, AQP2-Related
  • Fanconi Anemia, Group A
  • Fanconi Anemia, Group C
  • Fanconi Anemia, Group G
  • Fanconi anemia, Group J
  • Fibrochondrogenesis Type 2
  • FMR
  • Fragile X
  • Fumarase Deficiency
  • Galactokinase Deficiency (Galactosemia, Type II)
  • Galactose Epimerase Deficiency
  • Galactosemia
  • Gaucher Disease
  • Geroderma Osteodysplastica
  • Gitelman Syndrome
  • Glanzmann Thrombasthenia
  • Glucose-6-Phosphate Dehydrogenase Deficiency
  • Glutaric Acidemia, Type 1
  • Glutaric Acidemia, Type 2A
  • Glutaric Acidemia, Type 2B
  • Glutaric Acidemia, Type 2C
  • Glycine Encephalopathy, AMT-Related
  • Glycine Encephalopathy, GLDC-Related
  • Glycogen Storage Disease, Type IA
  • Glycogen Storage Disease, Type IB
  • Glycogen Storage Disease, Type II (Pompe Disease)
  • Glycogen Storage Disease, Type III (Cori/Forbes)
  • Glycogen Storage Disease, Type IV
  • Glycogen Storage Disease, Type V (McArdle Disease)
  • Glycogen Storage Disease, Type VII
  • GM3 Synthase Deficiency
  • GRACILE Syndrome
  • Grebe Syndrome
  • Guanidinoacetate Methyltransferase Deficiency
  • Harlequin Ichthyosis
  • Heme Oxygenase-1 Deficiency
  • Hemochromatosis, Type 1
  • Hemochromatosis, Type 2A
  • Hemochromatosis, Type 3, TFR2-Related
  • Hemophilia A
  • Hemophilia B
  • Hepatocerebral Mitochondrial DNA Depletion Syndrome, MPV17-Related
  • Hereditary Fructose Intolerance
  • Hereditary Spastic Paraparesis, Type 49
  • Herlitz Junctional Epidermolysis Bullosa, LAMA3-Related
  • Herlitz Junctional Epidermolysis Bullosa, LAMB3-Related
  • Herlitz Junctional Epidermolysis Bullosa, LAMC2-Related
  • Hermansky-Pudlak Syndrome 1
  • Hermansky-Pudlak Syndrome 3
  • Hermansky-Pudlak syndrome 4
  • HEX A Deficiency, including Acute Infantile (Tay-Sachs Disease), Juvenile, Chronic, or Adult-Onset Forms
  • Holocarboxylase Synthetase Deficiency
  • Homocystinuria due to Deficiency of MTHFR
  • Homocystinuria, CBS-Related
  • Homocystinuria, Type cblE
  • Hydatidiform Mole, Recurrent
  • Hydrolethalus Syndrome
  • Hypermethioninemia
  • Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome
  • Hyperoxaluria, Primary, Type 1
  • Hyperphosphatemic Familial Tumoral Calcinosis
  • Hypohidrotic Ectodermal Dysplasia
  • Hypohidrotic Ectodermal Dysplasia, X-Linked
  • Hypophosphatasia, ALPL-Related
  • Hypothyroidism, Congenital, Nongoitrous, 1
  • Inclusion Body Myopathy 2
  • Infantile Neuroaxonal Dystrophy 1
  • Isolated Growth Hormone Deficiency, Type IA/II
  • Isolated Growth Hormone Deficiency, Type IB
  • Isolated Growth Hormone Deficiency, Type III, X-Linked
  • Isovaleric Acidemia
  • Joubert Syndrome 2 / Meckel Syndrome 2
  • Juvenile Nephronophthisis
  • Juvenile Retinoschisis, X-Linked
  • Krabbe Disease
  • LAMA2-Related Muscular Dystrophy
  • Lamellar Ichthyosis, Type 1
  • Leber Congenital Amaurosis 1
  • Leber Congenital Amaurosis 2
  • Leber Congenital Amaurosis 8
  • Leber Congenital Amaurosis, Type CEP290
  • Leber Congenital Amaurosis, Type LCA5
  • Leber Congenital Amaurosis, Type RDH12
  • Leigh Syndrome
  • Leigh Syndrome, French-Canadian Type
  • Lethal Congenital Contracture Syndrome 1
  • Leukoencephalopathy with Vanishing White Matter
  • Leydig Cell Hypoplasia
  • Limb-Girdle Muscular Dystrophy, Type 2A
  • Limb-Girdle Muscular Dystrophy, Type 2B
  • Limb-Girdle Muscular Dystrophy, Type 2C
  • Limb-Girdle Muscular Dystrophy, Type 2D
  • Limb-Girdle Muscular Dystrophy, Type 2E
  • Limb-Girdle Muscular Dystrophy, Type 2F
  • Limb-Girdle Muscular Dystrophy, Type 2I
  • Lipoid Congenital Adrenal Hyperplasia
  • Lipoprotein Lipase Deficiency
  • Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
  • Lowe Syndrome, X-Linked
  • Lysinuric Protein Intolerance
  • Lysosomal Acid Lipase Deficiency
  • Malonyl-CoA Decarboxylase Deficiency
  • Maple Syrup Urine Disease, Type 1A
  • Maple Syrup Urine Disease, Type 1B
  • Maple Syrup Urine Disease, Type 2
  • Meckel-Gruber Syndrome, Type 1
  • Medium Chain Acyl-CoA Dehydrogenase Deficiency
  • Megalencephalic Leukoencephalopathy with Subcortical Cysts
  • Megaloblastic Anemia Syndrome
  • Menkes Syndrome, X-Linked
  • Mental Retardation, Autosomal Recessive 3
  • Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma (MEDNIK)
  • Metachromatic Leukodystrophy, ARSA-Related, Early Onset and Late Onset Forms
  • Metachromatic Leukodystrophy, PSAP-Related
  • Methylmalonic Aciduria and Homocystinuria, Type cblC
  • Methylmalonic Aciduria and Homocystinuria, Type cblD
  • Methylmalonic Aciduria, MMAA-Related
  • Methylmalonic Aciduria, MMAB-Related
  • Methylmalonic Aciduria, Type mut(0)
  • Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy
  • Microphthalmia/Anophthalmia, VSX2-Related
  • MIRAGE Syndrome
  • Mitochondrial Complex I Deficiency
  • Mitochondrial Complex I Deficiency, ACAD9-Related
  • Mitochondrial Complex I Deficiency, NDUFAF5-Related
  • Mitochondrial Complex I Deficiency, NDUFS6-Related
  • Mitochondrial DNA depletion syndrome 5 (Encephalomyopathic with or without Methylmalonic Aciduria)
  • Mitochondrial Myopathy and Sideroblastic Anemia (MLASA1)
  • Molybdenum cofactor deficiency
  • Mucolipidosis II/IIIA
  • Mucolipidosis III Gamma
  • Mucolipidosis, Type IV
  • Mucopolysaccharidosis, Type I (Hurler Syndrome)
  • Mucopolysaccharidosis, Type II (Hunter Syndrome)
  • Mucopolysaccharidosis, Type IIIA (Sanfilippo A)
  • Mucopolysaccharidosis, Type IIIB (Sanfilippo B)
  • Mucopolysaccharidosis, Type IIIC (Sanfilippo C)
  • Mucopolysaccharidosis, Type IIID (Sanfilippo D)
  • Mucopolysaccharidosis, Type IVA
  • Mucopolysaccharidosis, Type IVB / GM1 Gangliosidosis
  • Mucopolysaccharidosis, Type VI (Maroteaux-Lamy)
  • Mucopolysaccharidosis, Type VII
  • Mulibrey Nanism Syndrome
  • Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
  • Multiple Sulfatase Deficiency
  • Muscle-Eye-Brain Disease, POMGNT1-Related
  • Myasthenic Syndrome, Congenital, 22
  • Myoneurogastrointestinal Encephalopathy (MNGIE)
  • Myotubular Myopathy, X-Linked
  • N-acetylglutamate Synthase Deficiency
  • Nemaline Myopathy, NEB-Related
  • Niemann-Pick Disease, Type C1/D
  • Niemann-Pick Disease, Type C2
  • Niemann-Pick Disease, Types A/B
  • Nijmegen Breakage Syndrome
  • Non-Syndromic Hearing Loss (a.k.a. Connexin 26)
  • Non-Syndromic Hearing Loss (a.k.a. Connexin 30)
  • Oculocutaneous Albinism, Type 1
  • Oculocutaneous Albinism, Type 3
  • Oculocutaneous Albinism, Type 4
  • Odonto-Onycho-Dermal Dysplasia / Schopf-Schulz-Passarge Syndrome
  • Omenn Syndrome, RAG1-Related
  • Omenn Syndrome, RAG2-Related
  • Ornithine Aminotransferase Deficiency
  • Ornithine Transcarbamylase Deficiency
  • Osteopetrosis, Infantile Malignant, TCIRG1-Related
  • Pantothenate Kinase-Associated Neurodegeneration
  • Papillon-Lefevre Syndrome
  • Pendred Syndrome
  • Peroxisome Biogenesis Disorder 1A (Zellweger)
  • Peroxisome Biogenesis Disorder 3A (Zellweger)
  • Peroxisome Biogenesis Disorder 4A (Zellweger)
  • Peroxisome Biogenesis Disorder 5A (Zellweger)
  • Peroxisome Biogenesis Disorder 6A (Zellweger)
  • Persistent Müllerian Duct Syndrome Type 1
  • Persistent Müllerian Duct Syndrome Type 2
  • Phenylketonuria
  • Phosphoglycerate Dehydrogenase Deficiency
  • POLG-Related Disorders
  • Polycystic Kidney Disease, Autosomal Recessive
  • Pontocerebellar hypoplasia
  • Pontocerebellar Hypoplasia, Type 1 and 6, RARS2-Related
  • Pontocerebellar Hypoplasia, Type 1A
  • Pontocerebellar Hypoplasia, Type 1B
  • Pontocerebellar Hypoplasia, Type 2D
  • Pontocerebellar Hypoplasia, Type 2E
  • Primary Congenital Glaucoma
  • Primary Hyperoxaluria, Type 2
  • Primary Hyperoxaluria, Type 3
  • Progressive Familial Intrahepatic Cholestasis, Type 1
  • Progressive Familial Intrahepatic Cholestasis, Type 2
  • Progressive Familial Intrahepatic Cholestasis, Type 3
  • Progressive Pseudorheumatoid Dysplasia
  • Prolidase Deficiency
  • Propionic Acidemia, PCCA-Related
  • Propionic Acidemia, PCCB-Related
  • Prothrombin Deficiency
  • Pseudocholinesterase Deficiency
  • Pseudoxanthoma Elasticum
  • Pycnodysostosis
  • Pyridoxal 5'-Phosphate-Dependent Epilepsy
  • Pyridoxine-Dependent Epilepsy
  • Pyruvate Carboxylase Deficiency
  • Pyruvate Dehydrogenase Deficiency, PDHB-Related
  • Pyruvate Dehydrogenase Deficiency, X-Linked
  • Renal Tubular Acidosis and Deafness, ATP6V1B1-Related
  • Retinal Dystrophies, RLBP1-Associated
  • Retinitis Pigmentosa 25
  • Retinitis Pigmentosa 26
  • Retinitis Pigmentosa 28
  • Retinitis Pigmentosa 59
  • RETT Syndrome
  • Rhizomelic Chondrodysplasia Punctata, Type 1
  • Rhizomelic Chondrodysplasia Punctata, Type 3
  • Roberts Syndrome
  • Salla Disease
  • Sandhoff Disease
  • Schimke Immunoosseous Dysplasia
  • Segawa Syndrome, TH-Related
  • Severe Combined Immunodeficiency, ADA-Related
  • Severe Combined Immunodeficiency, Type Athabaskan
  • Severe Combined Immunodeficiency, X-Linked
  • Short Chain Acyl-CoA Dehydrogenase Deficiency
  • Short/branched chain acyl-CoA dehydrogenase
  • Shwachman-Diamond syndrome
  • Sialidosis
  • Sjogren-Larsson Syndrome
  • Smith-Lemli-Opitz Syndrome
  • Spastic Paraplegia Type 15
  • Spinal Muscular Atrophy
  • Spondylothoracic Dysostosis, MESP2-Related
  • Stargardt Disease, Type 1
  • Steroid-Resistant Nephrotic Syndrome
  • Stuve-Wiedemann Syndrome
  • Sulfate Transporter-related Osteochondrodysplasia  (Achondrogeneiss Type 1B, Diastrophic
  • Dysplasia, and Recessive Multiple Epiphyseal Dysplasia)
  • Tay-Sachs Disease
  • Tricho-Hepato-Enteric Syndrome
  • Trifunctional Protein Deficiency
  • Tyrosinemia, Type I
  • Tyrosinemia, Type II
  • Tyrosinemia, Type III
  • Usher Syndrome, Type 1B
  • Usher Syndrome, Type 1C
  • Usher Syndrome, Type 1D
  • Usher Syndrome, Type 1F
  • Usher Syndrome, Type 2A
  • Usher Syndrome, Type 3
  • Very Long-Chain Acyl-CoA Dehydrogenase Deficiency
  • Vitamin D-Dependent Rickets Type 1A
  • Von Willebrand Disease
  • Walker-Warburg Syndrome, FKTN-Related
  • Werner Syndrome
  • Wilson Disease
  • Wiskott-Aldrich Syndrome, X-Linked
  • Wolcott-Rallison Syndrome
  • Woolly Hair/Hypotrichosis Syndrome
  • Xeroderma pigmentosum Group A
  • Xeroderma Pigmentosum Group B
  • Xeroderma Pigmentosum Group C
  • Xeroderma Pigmentosum Group D
  • Xeroderma Pigmentosum Group E
  • Xeroderma Pigmentosum Group F
  • Xeroderma Pigmentosum Group G
  • Xeroderma Pigmentosum Variant

Ashkenazi Jewish Carrier Screening Panel

Screens for 61 genetic disorders that are most prevalent in people of Ashkenazi Jewish descent. Includes Tay-Sachs disease, Canavan disease, Cystic Fibrosis, Spinal Muscular Atrophy, and Fragile X syndrome.

See Full List of Ashkenazi Jewish Disorders
  • 3-Phosphoglycerate Dehydrogenase Deficiency
  • Abetalipoproteinemia
  • Alpha-Thalassemia
  • Alport Syndrome (C0L4A3-Related)
  • Arthrogryposis, Mental Retardation, and Seizures
  • Ataxia-Telangiectasia
  • Bardet-Biedl Syndrome (BBS2-Related)
  • Beta Hemoglobinopathies - Sickle Cell Anemia and Beta Thalassemia
  • Bloom Syndrome
  • Canavan Disease
  • Carnitine Palmitoyltransferase II Deficiency
  • Choreoacanthocytosis
  • Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
  • Congenital Amegakaryocytic Thrombocytopenia
  • Congenital Disorder of Glycosylation, Type IA
  • Cystic Fibrosis
  • Cystinosis
  • Deafness, Autosomal Recessive 77
  • Dihydroglipoamide Dehydrogenase Deficiency
  • Duchenne Muscular Dystrophy or Becker Muscular Dystrophy
  • Dyskeratosis Congenita (RTEL1-Related)
  • Ehlers-Danlos Syndrome, Type VLLC
  • Enhanced S-Cone Syndrome
  • Factor XI Deficiency
  • Familial Dysautonomia
  • Familial Hyperinsulinism, ABCC8-Related
  • Familial Mediterranean Fever
  • Fanconi Anemia Group C
  • Fragile X Syndrome
  • Galactosemia, GALT-Related
  • Gaucher Disease
  • Glycogen Storage Disease Type III
  • Glycogen Storage Disease, Type IA
  • Glycogen Storage Disease, Type II
  • Joubert Syndrome 2
  • Maple Syrup Urine Disease Type 1A
  • Maple Syrup Urine Disease Type 1B
  • Medium Chain Acyl-CoA Dehydrogenase Deficiency
  • Metachromatic Leukodystrophy
  • Mucolipidosis Type IV
  • Multiple Sulphatase Deficiency
  • Nemaline Myopathy, NEB-Related
  • Niemann-Pick Disease Types A and B
  • Phenylalanine Hydroxylase Deficiency
  • Phosphoglycerate Dehydrogenase Deficiency, PHGDH-Related
  • Polycystic Kidney Disease, Autosomal Recessive
  • Retinitis Pigmentosa 28
  • Retinitis Pigmentosa 59
  • Smith-Lemli-Optiz Syndrome
  • Spinal Muscular Atrophy
  • Tay-Sachs Disease
  • Tyrosinemia Type 1
  • Usher Syndrome Type IF
  • Usher Syndrome Type IIIA
  • Walker-Warburg Syndrome, FKTN-Related
  • Wilson Disease (ATP7B)
  • Zellweger Spectrum Disorder, PEX2-Related
  • Zellweger Spectrum Disorder, PEX6-Related

ACOG/ACMG Carrier Screening Panel

Screens for 15 common disorders that are recommended to women by the American College of Medical Genetics and Genomics (ACOG) and the American Congress of Obstetricians and Gynecologists (ACMG). Includes Cystic Fibrosis, Spinal Muscular Atrophy, and Fragile X syndrome.

See Full List of ACOG/ACMG Disorders
  • Alpha-Thalassemia
  • Beta Hemoglobinopathies: Sickle Cell Anemia and Beta Thalassemia
  • Bloom Syndrome
  • Canavan Disease
  • Cystic Fibrosis
  • Familial Dysautonomia
  • Fanconi Anemia Group C
  • Fragile X Syndrome
  • Gaucher Disease
  • Mucolipidosis Type IV
  • Niemann-Pick Disease Types A and B
  • Spinal Muscular Atrophy
  • Tay-Sachs Disease

Core Carrier Screening Panel

Screens for three common genetic disorders:

  • Cystic Fibrosis - the most common autosomal recessive disorder
  • Spinal Muscular Atrophy - second most common, lethal, autosomal recessive disorder
  • Fragile X Syndrome - X-linked disorder, leading cause of intellectual disabilities

The PsiGenex Advantage

PsiGenex is a premier laboratory that brings together industry leading expertise with state-of-the-art technologies to provide unparalleled precision testing to our clinicians and their patients.

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Actionable Reporting

With vast coverage of medically relevant genes and high sensitivity achieved through Next Generation Sequencing, our tests provide reports that allow patients to take action for their health.

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Industry Leading Turnaround Time

Results this important can’t wait. We are committed to providing most test results in under a week.

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Compassionate Billing

Our billing team works with every patient to ensure they have access to premium comprehensive genetic testing, regardless of insurance coverage.

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Accessible Medical Team

In an effort to help navigate the complexities of genetic testing, we provide complimentary genetic counseling services and are here to answer any questions about our testing process.