Diseases and Conditions

Depending on your patient's history, age, and ethnicity, we screen for up to 120 genetically inherited diseases or non inherited genetic conditions. Your understanding of your patient's unique history, background, and partner is the best guide to selecting which screens or panels are most appropriate for them.

Diseases and Conditions

Diseases and Conditions

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

Disease Name
FKRP-Related Disorders (Including Walker-Warburg Syndrome)
Niemann-Pick Disease Type A/B
Maple Syrup Urine Disease Type IB
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
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
Pycnodysostosis
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
Nijmegen Breakage Syndrome
Niemann-Pick Disease Type C, NPC1-Related
Nemaline Myopathy 2
POMGNT1-Related
Multiple Sulfatase Deficiency
Mucolopidosis IV
Metachromatic Leukodystrophy, ARSA-Related
Megalencephalic Leukoencephalopathy with Subcortical Cysts
Medium Chain Acyl-CoA Dehydrogenase Deficiency
Maple Syrup Urine Disease Type IA
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
Hypophosphatasia
Mucopolysaccharidosis Type 1
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 3
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
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
Cystinosis
Cystic Fibrosis & CFTR-Related Disorders
3-Methylglutaconic Aciduria Type III (Costeff Optic Atrophy)
Nephrotic Syndrome/Congenital Finnish Nephrosis
Congenital Disorder of Glycosylation, MPI-Related
Congenital Disorder of Glycosylation, PMM2-Related
Congenital Amegakaryocytic Thrombocytopenia
Combined Pituitary Hormone Deficiency
Cohen Syndrome
Neuronal Ceroid Lipofuscinosis, CLN5-Related
Neuronal Ceroid Lipofuscinosis, CLN3-Related
Citrullinemia Type 1
Choroideremia
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-Telangiectasia
Ataxia with Vitamin E Deficiency
Aspartylglucosaminuria
SLC35A3-Related Disorders
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)
Andermann Syndrome
Alpha-Mannosidosis
Alpha Thalassemia X-Linked Intellectual Disability Syndrome
Alkaptonuria
Achromatopsia
Abetalipoproteinemia
Familial Hyperinsulinism, ABCC8-Related
3-Phosphoglycerate Dehydrogenase Deficiency/Neu-Laxova Syndrome

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