What Does NxGen MDx Screen For?

We screen for up to 147 genetic disorders that can affect your pregnancy, the health of your baby, and your family's future. You can learn more about our various screens — and which sets of screens (or "panels") align with where you are in your reproductive journey.


For detailed information on a specific inherited genetic disease or non-inheritable genetic condition, select from the list below.

Disease Name
Usher Syndrome Type IB/MYO7A-Related Disorders
X-Linked Congenital Adrenal Hypoplasia
Sialic Acid Storage Disorders
Pseudocholinesterase Deficiency
Phosphoglycerate Dehydrogenase Deficiency/Neu-Laxova Syndrome
Lysosomal Acid Lipase Deficiency
Lipoid Congenital Adrenal Hyperplasia, STAR-Related
Limb-Girdle Muscular Dystrophy Type 2A (Calpainopathy)
Hemophilia C/Factor XI Deficiency
Glycogen Storage Disease Type IV/Adult Polyglucosan Body Disease
Glycogen Storage Disease Type III
Glycine Encephalopathy, GLDC-Related
Glycine Encephalopathy, AMT-Related
Dihydropyrimidine Dehydrogenase Deficiency
Congenital Amegakaryocytic Thrombocytopenia
Bardet-Biedl Syndrome, MMKS-Related
17-Alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency (Congenital Adrenal Hyperplasia)
DMD-Related Dystrophinopathy (Duchenne Muscular Dystrophy and Becker Muscular Dystrophy)
SeSAME Syndrome, Enlarged Vestibular Aqueduct, Digenic
Nonsyndromic Hearing Loss, FOXI1-Related
Nonsyndromic Hearing Loss, GJB6-Related
Nonsyndromic Hearing Loss, GJB3-Related
X-Linked Adrenoleukodystrophy
Usher Syndrome Type IIA/USH2A-Related Disorders
Usher Syndrome Type ID/CDH23-Related Disorders
Tyrosinemia Type II
Propionic Acidemia, PCCB-Related
Propionic Acidemia, PCCA-Related
Methylmalonic Acidemia, MUT-Related
Methylmalonic Acidemia, MMAB-Related
Methylmalonic Acidemia, MMAA-Related
Methylmalonic Acidemia with Homocystinuria, Cobalamin D Type
Methylmalonic Acidemia with Homocystinuria, Cobalamin C Type
Holocarboxylase Synthetase Deficiency
Galactokinase Deficiency
Citrin Deficiency
Beta-Ketothiolase Deficiency
Argininosuccinic Aciduria
ADA-Related Conditions
3-Methylcrotonyl-CoA Carboxylase (3-MCC) Deficiency, MCCC2-Related
3-Methylcrotonyl-CoA Carboxylase (3-MCC) Deficiency, MCCC1-Related
3-Hydroxy-3-Methylglutaryl- CoA (HMG-CoA) Lyase Deficiency
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
FKRP-Related Disorders (Including Walker-Warburg Syndrome)
Niemann-Pick Disease Type A/B
Homocystinuria, Cobalamin E Type
Homocystinuria Due to MTHFR Deficiency
Glycogen Storage Disease Type IB
Galactosemia, GALT-Related
Alport Syndrome, X-Linked
Alport Syndrome, COL4A4-Related
Alpha-Thalassemia/Alpha-Globin Triplication
Dihydrolipoamide Dehydrogenase Deficiency
X-Linked Juvenile Retinoschisis
Wilson Disease
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency
Usher Syndrome Type IIIA
Usher Syndrome Type 1F/PCDH15-Related Disorders
Tyrosinemia Type I
Neuronal Ceroid Lipofuscinosis, TPP1-Related
Tay-Sachs Disease
SLC26A2-Related Disorders
Nephrotic Syndrome/Steroid-Resistant Nephrotic Syndrome, NPHS2-Related
Spinal Muscular Atrophy
Smith-Lemli-Opitz Syndrome
Sjögren-Larsson Syndrome
HBB-Related Hemoglobinopathies (Beta-Thalassemia/Sickle Cell Disease)
Short Chain Acyl-CoA Dehydrogenase Deficiency
Tyrosine Hydroxylase Deficiency
Salla Disease
Rhizomelic Chondrodysplasia Punctata Type 1/Refsum Disease
DHDDS-Related Disorders
Prothrombin-related Thrombophilia
Primary Hyperoxaluria Type 2, GRHPR-Related
Primary Hyperoxaluria Type 1, AGXT-Related
Primary Carnitine Deficiency
Neuronal Ceroid Lipofuscinosis, PPT1-Related
Glycogen Storage Disease Type II (Pompe Disease)
Phenylalanine Hydroxylase Deficiency
Zellweger Syndrome Spectrum, PEX1-Related
Pendred Syndrome
Neuronal Ceroid-Lipofuscinosis/Northern Epilepsy, CLN8-Related
Nijmegen Breakage Syndrome
Niemann-Pick Disease Type C, NPC1-Related
Nemaline Myopathy 2
POMGNT1-Related Disorders
Multiple Sulfatase Deficiency
Mucolopidosis IV
Metachromatic Leukodystrophy, ARSA-Related
Megalencephalic Leukoencephalopathy with Subcortical Cysts Type 1
Medium Chain Acyl-CoA Dehydrogenase Deficiency
Maple Syrup Urine Disease Type 1A/1B
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
Limb-Girdle Muscular Dystrophy Type 2E
Limb-Girdle Muscular Dystrophy Type 2D
Junctional Epidermolysis Bullosa, LAMC2-Related
Junctional Epidermolysis Bullosa, LAMB3-Related
Junctional Epidermolysis Bullosa, LAMA3-Related
Krabbe Disease
Joubert Syndrome 2/TMEM216-Related Disorders
Isovaleric Acidemia
Inclusion Body Myopathy 2
Mucopolysaccharidosis Type I
Homocystinuria Due to Cystathionine Beta-Synthase Deficiency
Hereditary Thymine-Uraciluria
Hereditary Fructose Intolerance
GRACILE Syndrome/BCS1L-Related Disorders
Glycogen Storage Disease Type V
Glycogen Storage Disease Type 1A
Glutaric Acidemia Type I
Glucose-6-Phosphate Dehydrogenase Deficiency
Nonsyndromic Hearing Loss, GJB2-Related
Gaucher Disease
Galactosemia, GALE-Related
Fragile X and FMR1-Related Disorders
FKTN-Related Disorders (Including Walker-Warburg Syndrome)
Fanconi Anemia Type C
Familial Mediterranean Fever
Familial Dysautonomia
Factor XI Deficiency/Hemophilia C
Factor V Leiden Thrombophilia
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Dyskeratosis Congenita (autosomal)
D-Bifunctional Protein Deficiency
Cystic Fibrosis & CFTR-Related Disorders
3-Methylglutaconic Aciduria Type III (Costeff Optic Atrophy)
Nephrotic Syndrome/Congenital Finnish Nephrosis, NPHS1-Related
Congenital Disorder of Glycosylation, MPI-Related
Congenital Disorder of Glycosylation, PMM2-Related
Combined Pituitary Hormone Deficiency
Cohen Syndrome
Neuronal Ceroid Lipofuscinosis, CLN5-Related
Neuronal Ceroid Lipofuscinosis, CLN3-Related
Citrullinemia Type 1
Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders
Carnitine Palmitoyltransferase II Deficiency
Carnitine Palmitoyltransferase IA Deficiency
Canavan Disease
Bloom Syndrome
Biotinidase Deficiency
Bardet-Biedl Syndrome, BBS10-Related
Bardet-Biedl Syndrome, BBS1-Related
Polycystic Kidney Disease, Autosomal Recessive
Alport Syndrome, COL4A3-Related
Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy
Ataxia with Vitamin E Deficiency
SLC35A3-Related Disorders
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)
Andermann Syndrome
Alpha Thalassemia X-Linked Intellectual Disability Syndrome
Familial Hyperinsulinism, ABCC8-Related

Talk to a Genetic Counselor

As a NxGen client, you'll have access to personal genetic counselors who can help explain the results of your screens and provide insight on how to move forward. To schedule a personal conference to discuss your screen results, call (855) 776-9436. or click the link below.

Discuss Your Screening Results