Equitable Carrier Screening From NxGen MDx

NxGen MDx's Super Panel is a carrier screen focused on providing equitable care, regardless of a patient's ethnicity or family history. Taking into consideration evidence-based guidelines from multiple societal bodies, NxGen MDx has curated a panel with 147 conditions that provide actionable results and better patient outcomes.

Equitable Carrier Screening From NxGen MDx

Carrier Screening is for All Patients

The American College of Obstetricians and Gynecologists recommends that
“Information about genetic carrier screening should be provided to every pregnant woman.”1

Genetic Conditions are Collectively Common

NxGen MDx's Super Panel: Equitable Carrier Screening for Better Patient Outcomes

The American College of Medical Genetics and Genomics states that “Carrier screening paradigms should be ethnic and population neutral and more inclusive of diverse populations to promote equity and inclusion."4

The Super Panel prioritizes intelligently curated gene selection and comprehensive technology to provide an equitable carrier screening panel for all patients, regardless of their ethnicity or family history.

With one of the highest at-risk couple detection rates in the industry, NxGen MDx gives you confidence that you are not missing carrier couples.

Conditions on the Super Panel

  • 3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency (Congenital Adrenal Hyperplasia)
  • 3-Hydroxy-3-Methylglutaryl-CoA (HMG-CoA) Lyase Deficiency
  • 3-Methylcrotonyl-CoA Carboxylase (3-MCC) Deficiency, MCCC1, MCC2-Related
  • 3-Methylglutaconic Aciduria Type III (Costeff Optic Atrophy)
  • 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
  • 17-Alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
  • 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
  • Abetalipoproteinemia
  • Achromatopsia
  • ADA-Related Conditions
  • Alkaptonuria
  • Alpha-Thalassemia/Alpha-Globin Triplication
  • Alpha-Mannosidosis
  • Alport Syndrome, COL4A4-Related
  • Andermann Syndrome
  • Argininosuccinic Aciduria
  • Arthrogryposis, Mental Retardation, and Seizures (AMRS)
  • Aspartylglucosaminuria
  • Ataxia-Telangiectasia
  • Ataxia With Vitamin E Deficiency
  • Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy
  • Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)
  • Bardet-Biedl Syndrome, BBS1-Related
  • Bardet-Biedl Syndrome, BBS10-Related
  • Bardet-Biedl Syndrome, MKKS-Related
  • Beta-Ketothiolase Deficiency
  • Beta-Thalassemia
  • Biotinidase Deficiency
  • Bloom Syndrome
  • Canavan Disease
  • Carnitine Palmitoyltransferase I Deficiency
  • Carnitine Palmitoyltransferase II Deficiency
  • Cartilage-Hair Hypoplasia, Anauxetic Dysplasia Spectrum Disorders
  • Choroideremia
  • Citrin Deficiency
  • Citrullinemia Type 1
  • Cohen Syndrome
  • Combined Pituitary Hormone Deficiency
  • Congenital Amegakaryocytic Thrombocytopenia
  • Congenital Disorder of Glycosylation Type Ia
  • Congenital Disorder of Glycosylation Type Ib
  • Cystic Fibrosis and Other CFTR-Related Disorders
  • Cystinosis
  • D-Bifunctional Protein Deficiency
  • DHDDS-Related Disorders (including Retinitis Pigmentosa 59)
  • Dihydrolipoamide Dehydrogenase Deficiency
  • Dihydropyrimidine Dehydrogenase Deficiency
  • DMD-Related Dystrophinopathy (Duchenne Muscular Dystrophy and Becker Muscular Dystrophy)
  • Dyskeratosis Congenita
  • Ehlers-Danlos Syndrome, Dermatosparaxis Type
  • Familial Dysautonomia
  • Familial Hyperinsulinism, ABCC8-Related
  • Familial Mediterranean Fever
  • Fanconi Anemia Type C
  • FKTN-Related Disorders (Including Walker-Warburg Syndrome)
  • Fragile X and FMR1-Related Disorders
  • Galactokinase Deficiency
  • Galactosemia, GALT-Related
  • Gaucher Disease
  • Glucose-6-Phosphate Dehydrogenase Deficiency
  • Glutaric Acidemia Type 1
  • 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
  • Glycogen Storage Disease Type IV/Adult Polyglucosan Body Disease
  • Glycogen Storage Disease Type V
  • GRACILE Syndrome/BCS1L-Related Disorders
  • Hemophilia C/Factor XI Deficiency
  • Hereditary Fructose Intolerance
  • Holocarboxylase Synthetase Deficiency
  • Homocystinuria Due to Cystathionine Beta-Synthase Deficiency
  • Homocystinuria, Cobalamin E Type
  • Hypophosphatasia
  • Inclusion Body Myopathy 2
  • Isovaleric Acidemia
  • Joubert Syndrome 2/TMEM216-Related Disorders
  • Junctional Epidermolysis Bullosa, LAMA3-Related
  • Junctional Epidermolysis Bullosa, LAMB3-Related
  • Junctional Epidermolysis Bullosa, LAMC2-Related
  • Krabbe Disease
  • Limb-Girdle Muscular Dystrophy Type 2A
  • Limb-Girdle Muscular Dystrophy Type 2D
  • Limb-Girdle Muscular Dystrophy Type 2E
  • Lipoid Congenital Adrenal Hyperplasia, STAR-Related
  • Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
  • Lysosomal Acid Lipase Deficiency
  • Maple Syrup Urine Disease Type 1A
  • Maple Syrup Urine Disease Type 1B
  • Medium Chain Acyl-CoA Dehydrogenase Deficiency
  • Megalencephalic Leukoencephalopathy with Subcortical Cysts Type 1:
  • Metachromatic Leukodystrophy, ARSA-Related
  • Methylmalonic Acidemia with Homocystinuria, Cobalamin C Type
  • Methylmalonic Acidemia with Homocystinuria, Cobalamin D Type:
  • Methylmalonic Acidemia, MMAA, MMAB-Related
  • Mucolipidosis IV
  • Mucopolysaccharidosis Type I (Hurler Syndrome)
  • Multiple Sulfatase Deficiency
  • Nemaline Myopathy 2
  • Nephrotic Syndrome/Congenital Finnish Nephrosis, NPHS1-Related
  • Nephrotic Syndrome/Steroid-Resistant Nephrotic Syndrome, NPHS2-Related
  • Neuronal Ceroid Lipofuscinosis, CLN3-Related
  • Neuronal Ceroid Lipofuscinosis, CLN5-Related
  • Neuronal Ceroid Lipofuscinosis, PPT1-Related
  • Neuronal Ceroid Lipofuscinosis, TPP1-Related
  • Neuronal Ceroid Lipofuscinosis/Northern Epilepsy, CLN8-Related
  • Niemann-Pick Disease Type A/B
  • Niemann-Pick Type C, NPC1-Related
  • Nijmegen Breakage Syndrome
  • Nonsyndromic Hearing Loss GJB2/GJB3/GJB6- Related
  • Pendred Syndrome
  • Phenylalanine Hydroxylase Deficiency
  • Phosphoglycerate Dehydrogenase Deficiency/Neu-Laxova Syndrome
  • Polycystic Kidney Disease, Autosomal Recessive
  • POMGNT1-Related Disorders
  • Primary Carnitine Deficiency
  • Primary Hyperoxaluria Type 1, AGXT-Related
  • Primary Hyperoxaluria Type 2, GRHPR-Related
  • Propionic Acidemia, PCCA-Related
  • Propionic Acidemia, PCCB-Related
  • Pseudocholinesterase Deficiency
  • Pycnodysostosis
  • Rhizomelic Chondrodysplasia Punctata Type 1/Refsum Disease
  • Short Chain Acyl-CoA Dehydrogenase Deficiency
  • Sialic Acid Storage Disorders
  • Sickle Cell (HbS) and HbC Disease
  • Sjögren-Larsson Syndrome
  • SLC26A2-Related Disorders
  • Smith-Lemli-Opitz Syndrome
  • Spinal Muscular Atrophy
  • Tay-Sachs Disease
  • Tyrosine Hydroxylase Deficiency
  • Tyrosinemia Type I
  • Tyrosinemia Type II
  • Usher Syndrome Type IB/MYO7A-Related Disorders
  • Usher Syndrome Type ID/CDH23-Related Disorders
  • Usher Syndrome Type IF/PCDH15-Related Disorders
  • Usher Syndrome Type IIA/USH2A-Related Disorders
  • Usher Syndrome Type IIIA
  • Very Long-Chain Acyl-CoA Dehydrogenase Deficiency
  • Wilson Disease
  • X-Linked Adrenoleukodystrophy
  • X-Linked Congenital Adrenal Hypoplasia
  • X-Linked Juvenile Retinoschisis
  • Zellweger Syndrome Spectrum, PEX1-Related

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To review a patient's screening results, login to our HCP portal. To schedule a sample pick-up, click on the link below. To contact our Business Office, please call (855) 776-9436.

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1. Committee Opinion No. 691: Carrier Screening for Genetic Conditions. Obstet Gynecol. 2017 Mar;129(3):e41–55.
2. Blythe SA, Farrell PM. Advances in the diagnosis and management of cystic fibrosis. Clin Biochem. 1984 Oct;17(5):277–83.
3. Johansen Taber KA, Beauchamp KA, Lazarin GA, Muzzey D, Arjunan A, Goldberg JD. Clinical utility of expanded carrier screening: results-guided actionability and outcomes. Genet Med. 2019 May;21(5):1041–8.
4. Gregg AR, Aarabi M, Klugman S, Leach NT, Bashford MT, Goldwaser T, et al. Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Oct;23(10):1793–806
5. NxGen MDx. 2021. Data on file.