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
X-linked Juvenile Retinoschisis
Wilson Disease
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency
Usher Syndrome Type 3
Usher Syndrome Type 1F & III
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
Pseudocholinesterase Deficiency
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
LAMA3-Related Junctional Epidermolysis Bullosa
Krabbe Disease
Joubert Syndrome 2
Isovaleric Acidemia
Inclusion Body Myopathy 2
Hurler Syndrome (Mucopolysaccharidosis Type 1)
HFE-Associated Hereditary Hemochromatosis
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
GJB2-Related DFNB1 Nonsyndromic Hearing Loss and Deafness
Gaucher Disease
Fragile X
FKTN-Related Walker-Warburg Syndrome
FANCC-Associated Fanconi Anemia
Familial Mediterranean Fever
Familial Dysautonomia
Factor XI Deficiency
Factor V Leiden Thrombophilia
Ehlers-Danlos Syndrome Type VIIC
Dyskeratosis Congenita (autosomal)
Dyskeratosis Congenita
D-Bifunctional Protein Deficiency
Cystic Fibrosis
Costeff Optic Atrophy Syndrome
Congenital Finnish Nephrosis
Congenital Disorder of Glycosylation, Type Ib
Congenital Disorder of Glycosylation, Type Ia
Congenital Amegakaryocytic Thrombocytopenia
Combined Pituitary Hormone Deficiency
Cohen Syndrome
CLN5-Related Neuronal Ceroid Lipofuscinosis
CLN3-Related Neuronal Ceroid Lipofuscinosis
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
Autosomal Recessive Alport Syndrome
Autoimmune Polyglandular Syndrome Type 1
Ataxia with Vitamin E Deficiency
Arthrogryposis, Mental Retardation, and Seizures
Andermann Syndrome
Alpha-1 Antitrypsin Deficiency
Alpha Thalassemia
ABCC8-Related Hyperinsulinism
3-Phosphoglycerate Dehydrogenase Deficiency

Discovering Your Genetic Inheritance

Every cell in our body carries two sets of genes — a set from each parent (one from the mother's egg and one from the father's sperm). Genes are made up of chromosomes, which are made up of DNA. And by looking at your DNA, screening can reveal your risk for carrying and passing along a gene or a chromosomal abnormality to your child. Genes can be either "recessive" or "dominant." The charts below show the possible outcomes depending on the genes of the mother's egg and those from the father's sperm.

Recessive Genetic Disease

A recessive genetic disease occurs when both copies of a particular gene have pathogenic variants. If you have one copy of a gene with a variant and one normal copy of that same gene, you are considered a "carrier" for that recessive genetic disease even though you are not affected by that disease.

In order for carriers to pass on a recessive gene, both partners would have to be carriers of the same genetic disease.

Dominant Genetic Disease

A dominant genetic disease occurs when one of the two copies of a particular gene has a pathogenic variant. Only one of the copies of the gene needs to have a pathogenic variant in order for an individual to be affected by a dominant genetic disease (recessive diseases require both copies to have variants). If either you or your partner have a dominant genetic disease, you run a 50% risk of having a child affected by that genetic disease.

X-Linked Disorders

The X and Y chromosomes (often called the sex chromosomes) determine whether a baby is male or female. Males have one X and one Y, while females have two X chromosomes. Some disorders are caused by variants or alterations of the X chromosome. Generally, if a woman has a pathogenic variant on one of the genes located on an X chromosome, she is considered a carrier — and has a 50% chance of passing that variant onto her children. If she passes on the variant on to a male child, that child can be affected with the condition. Affected males will not pass the variant onto their sons, but daughters of affected males will be carriers of the variant. Female carriers rarely develop symptoms of the condition but their daughters have a 50% chance of being carriers.

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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 (866) 661-7966​.

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