What Does NxGen MDx Screen For?

We screen for up to 120 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.

What Does NxGen MDx Screen For?


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

Disease Name
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 3
Usher Syndrome Type 1F
Type I Tyrosinemia
TPP1-Related Neuronal Ceroid Lipofuscinosis
Tay-Sachs Disease
Sulfate Transporter-Related Osteochondrodysplasia
Steroid-Resistant Nephrotic Syndrome
Spinal Muscular Atrophy
Smith-Lemli-Opitz Syndrome
Sjögren-Larsson Syndrome
Sickle Cell Anemia
Short Chain Acyl-CoA Dehydrogenase Deficiency
Segawa Syndrome
Salla Disease
Rhizomelic Chondrodysplasia Punctata Type 1
Retinitis Pigmentosa 59
Prothrombin-related Thrombophilia
Primary Hyperoxaluria Type 2
Primary Hyperoxaluria Type 1
Primary Carnitine Deficiency
PPT1-Related Neuronal Ceroid Lipofuscinosis
Pompe Disease
Phenylalanine Hydroxylase Deficiency
PEX1-related Zellweger Syndrome Spectrum
Pendred Syndrome
Northern Epilepsy
Nijmegen Breakage Syndrome
Niemann-Pick Disease Type C
NEB-related Nemaline Myopathy
Muscle-Eye-Brain Disease
Multiple Sulfatase Deficiency
Mucolopidosis IV
Metachromatic Leukodystrophy
Megalencephalic Leukoencephalopathy with Subcortical Cysts
Medium Chain Acyl-CoA Dehydrogenase Deficiency
Maple Syrup Urine Disease
Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency
Limb-Girdle Muscular Dystrophy Type 2E
Limb-Girdle Muscular Dystrophy Type 2D
LAMC2-Related Junctional Epidermolysis Bullosa
LAMB3-Related Junctional Epidermolysis Bullosa
Junctional Epidermolysis Bullosa, LAMA3 Related
Krabbe Disease
Joubert Syndrome 2
Isovaleric Acidemia
Inclusion Body Myopathy 2
Hurler Syndrome (Mucopolysaccharidosis Type 1)
Hereditary Thymine-Uraciluria
Hereditary Fructose Intolerance
Gracile Syndrome
Glycogen Storage Disease Type V
Glycogen Storage Disease Type 3
Glycogen Storage Disease Type 1a
Glutaric Acidemia Type Ia
Glucose-6-Phosphate Dehydrogenase Deficiency
Nonsyndromic Hearing Loss, GJB2-Related
Gaucher Disease
Fragile X
FKTN-Related Disorders (Including Walker-Warburg Syndrome)
Fanconi Anemia Type C
Familial Mediterranean Fever
Familial Dysautonomia
Factor XI Deficiency
Factor V Leiden Thrombophilia
Ehlers-Danlos Syndrome Type VIIC
Dyskeratosis Congenita (autosomal)
D-Bifunctional Protein Deficiency
Cystic Fibrosis
3-Methylglutaconic Aciduria Type III (Costeff Optic Atrophy)
Congenital Finnish Nephrosis
Congenital Disorder of Glycosylation, Type Ib
Congenital Disorder of Glycosylation, Type Ia
Congenital Amegakaryocytic Thrombocytopenia
Combined Pituitary Hormone Deficiency
Cohen Syndrome
Neuronal Ceroid Lipofuscinosis, CLN5-Related
Neuronal Ceroid Lipofuscinosis/Northern Epilepsy
Classic Citrullinemia
Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders
Carnitine Palmitoyltransferase II Deficiency
Carnitine Palmitoyltransferase IA Deficiency
Canavan Disease
Bloom Syndrome
Biotinidase Deficiency
Beta Thalassemia
Bardet-Biedl Syndrome (BBS10-related)
Bardet-Biedl Syndrome (BBS1-related)
Autosomal Recessive Polycystic Kidney Disease
Alport Syndrome, COL4A3-Related
Polyglandular Autoimmune Syndrome Type 1
Ataxia with Vitamin E Deficiency
Arthrogryposis, Mental Retardation, and Seizures
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)
Andermann Syndrome
Alpha Thalassemia X-Linked Intellectual Disability Syndrome
Familial Hyperinsulinism, ABCC8-Related
3-Phosphoglycerate Dehydrogenase Deficiency

Which Screens Are Right for You?

Determining which screens or set of screens are right for you will depend on where you are in your reproductive journey. Tell us where you are today so you can learn more about how to move forward tomorrow.

Planning to Have a Baby Already Expecting
Which Screens Are Right for You?

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