Some of the more common genetic defects, disorders, and diseases that may raise concern include:
- Allergic & Immunologic Disorders
- Allergies, Agammaglobulinemia, Asthma, Severe combined immunodeficiencies, Wiscott Aldrich syndrome;
- Cancer Syndromes
- Adenomatous polyposis (FAP or APC), Ataxia-telangectasia, Basal cell nevus, Bloom syndrome, Breast/ovarian cancer (BRCA), Breast/other, Carcinoid, Carney syndrome, Chordoma, Cockayne syndrome, Colon cancer (Lynch syndrome or HNPCC), Cowden syndrome, Esophagus with tylosis, Fanconi anemia, Gardner syndrome, Gastric cancer, Hamartoses, Hemangiomatosis, Hodgkin's disease, Li-Fraumeni syndrome, Melanoma, Multiple endocrine neoplasia 1, Multiple endocrine neoplasia 2, Neurofibromatosis 1, Neurofibromatosis 2, Osteochondromatosis, Pancreatic cancer, Paraganglioma, Peutz-Jeghers syndrome, Prostate cancer, Proteus syndrome, Renal cancer, Retinoblastoma, Rothmund-Thomson syndrome, Testicular cancer, Tuberous sclerosis, Turcot syndrome, Von Hipple-Lindau syndrome, Werner syndrome, Wilms tumor, Xeroderma pigmentosum;
- Cardiac and Vascular Disorders
- Arhythmias, Cardiomyopathies, Congenital heart defects, Familial aneurysms, Hypertension, Hyperlipidemias;
- Endocrine Disorders
- Diabetes mellitus type 1, Diabetes mellitus type 2, MODY, Hashimoto thyroiditis, Pseudohypoparathyroidism, Metabolic syndrome;
- Fertility and Pregnancy Concerns
- Infertility, Miscarriage, Birth defects, Cleft lip, Cleft palate, Congenital heart defects, Chromosome abnormalities (such as Trisomy 21 or Down syndrome), Consanguinity, Geoethnic ancestry, Family history, Maternal age, or prior personal history of birth defects or genetic disease;
- Gastrointestinal Disorders
- Crohn's disease, Inherited jaundice, Irritable bowel disease, Ulcerative colitis, Metabolic syndrome, Obesity;
- Hematologic Disorders
- Factor V Leiden and other causes of thrombophilia, G-6-PD deficiency, Hemachromatosis, Hemophilias, Hereditary anemias, Sickle cell disease, Thalassemia;
- Metabolic Disorders
- Amino acid diseases, Biotinidase deficiency, Canavan disease, Fatty acid oxidation defects, Galactosemia, Gaucher disease, Lysosomal storage diseases, Maple syrup urine disease, Mitochondrial diseases, Mucopolysaccharidoses, Organic acid diseases, Peroxisomal diseases, Phenylketonuria (PKU), Tay Sachs disease, Urea cycle diseases, Infant with an abnormal newborn screen;
- Neurologic Disorders
- Alzheimer's disease, Asperger syndrome, Ataxias, Autism, Dementia, Familial multiple sclerosis, Familial Parkinson's disease, Fragile X syndrome, Huntington's chorea, Hypotonia, Mental retardation, Muscular dystrophy, Myotonic dystrophy;
- Psychiatric Disorders
- Bipolar disorder, Obsessive-compulsive disorder, Schizophrenia;
- Pulmonary Disorders
- Alpha-1-antitrypsin deficiency, Cystic fibrosis;