PREDICAGEN LLC REPORT
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- Bethanie Griffin
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1 The report below is a scientific interpretation of the DNA variants (referred as RS numbers) to the customer by a third party (for example 23andMe). The report should not be considered exclusive, because of several reasons: (a) typically the customer provides limited number of DNA variants since the third party company typically does not do whole DNA sequencing, but rather targets particular positions of the customer DNA; (b) some variants may not be interpretable due to lack of clinical data. In addition, it should be stated again that due to the complexity of human genomic data, the observation that the customer has DNA variant which is found to be disease-causing in another individual does not necessarily indicate that the customer has the same high probability to develop the disease. Finally, due to complexity of matching fussy language expressions, a particular RS may be reported to be associated with more than one disease. PREDICAGEN LLC REPORT Case: 164 Below we describe the meanings of the symbols/abbreviations used in the report. name: Standardized disease names taken in accordance with International Statistical Classifcation of Diseases and Related Health Problems (ICD). This is the name of disease that your primary physician will recognize and use to make decisions about your health. : Corresponding disease names taken from International Statistical Classifcation of Diseases and Related Health Problems (ICD). This is the number (the tag) of disease listed in your primary physician booklet and used by your health insurance provider. score: Disease name matching score using (maximum 100). This is a measure of confidence of matching scientific descriptors and ICD names. The large number(but smaller than 100) indicates high confidence. Phenotype: The set of observable characteristics of corresponding disease. This is scientific description of effect of the DNA variant(s) on functionality of the corresponding biological macromolecules. If you want to know more how your DNA variants affect the corresponding macromolecules functionality at molecular level, you should contact us at support@predicagen.com (mailto: support@predicagen.com). RS : The genetic variants RS. This is a list of DNA variants associated with the corresponding disease. More RS numbers associated with a disease indicate higher probability that you are at risk. High and medium confidence: The first table "high confidence predictions" list cases for which your DNA variant exactly matches the variant in ClinVar database; the second table "medium confidence predictions" list cases for which you do not have the wild type nucleotide. High Confidence Predictions Other disorders of peroxisome biogenesis E Peroxisome biogenesis disorder 6B , Neuronal ceroid lipofuscinosis E Ceroid lipofuscinosis neuronal 1;not Immunodeficiency, un D Immunodeficiency 20;not Primary open-angle glaucoma, left eye, stage un Choroidal dystrophy (central areolar) (generalized) (peripapillary) H Coloboma;Primary open angle glaucoma;not H Choroidal dystrophy, central areolar 2;not /6
2 Beta thalassemia D beta Thalassemia , , Delta-beta thalassemia D delta Thalassemia , Smith-Lemli-Opitz E Smith-Lemli-Opitz ;not Mucopolysaccharidosis, type II E Mucopolysaccharidosis, MPS-III-A , Classical phenylketonuria E Phenylketonuria Tay-Sachs disease E Tay-Sachs disease Other GM2 gangliosidosis E Gm2-gangliosidosis, subacute Refractory anemia, un D Fanconi anemia;not Congenital bullous ichthyosiform erythroderma Q Bullous ichthyosiform erythroderma;not Osteogenesis imperfecta Q Osteogenesis imperfecta type I , Glutaric aciduria type II E Glutaric aciduria, type Metachromatic leukodystrophy E Metachromatic leukodystrophy;not Medium Confidence Predictions Other disorders of peroxisome biogenesis Congenital night blindness E Peroxisome biogenesis disorder 6B H Congenital stationary night blindness , , , , , , /6
3 Folate deficiency anemia, un D Muscle AMP deaminase deficiency;not Ichthyosis vulgaris Q Ichthyosis vulgaris Familial hypercholesterolemia Hyperstimulation of ovaries E Familial hypercholesterolemia N Ovarian hyperstimulation , , MERRF E Perry , , Other hypertrophic cardiomyopathy I Familial hypertrophic cardiomyopathy Other hemochromatosis E Hemochromatosis type Long chain/very long chain acyl CoA dehydrogenase deficiency GM2 gangliosidosis, un Morquio B mucopolysaccharidoses Choroidal dystrophy (central areolar) (generalized) (peripapillary) Disease of pancreas, un Malignant carcinoid tumor of the stomach E Very long chain acyl- CoA dehydrogenase deficiency;not E Infantile GM1 gangliosidosis;not E Mucopolysaccharidosis, MPS-IV-B H Choroidal dystrophy, central areolar 2;not K Parkinson disease 2;not C7A Malignant tumor of prostate , , , , , , , Achromatopsia H Achromatopsia /6
4 Non-ketotic hyperglycinemia Familial dysautonomia [Riley-Day] Hemophagocytic lymphohistiocytosis E Non-ketotic hyperglycinemia G Familial dysautonomia;not D Hemophagocytic lymphohistiocytosis, familial, , Beta thalassemia D beta Thalassemia , , Neuronal ceroid lipofuscinosis Transient neonatal myasthenia gravis E Ceroid lipofuscinosis neuronal 2 P Cyanosis, transient neonatal Delta-beta thalassemia D delta Thalassemia , , , Congenital central alveolar hypoventilation Smith-Lemli-Opitz Aggressive periodontitis, un G Congenital central hypoventilation E Smith-Lemli-Opitz K Periodontitis, aggressive, , , Dystonia, un G Dystonia;not Hereditary vitamin D- dependent rickets (type 1) (type 2) Congenital bullous ichthyosiform erythroderma E Vitamin D-dependent rickets, type 1 Q Bullous ichthyosiform erythroderma;not , , , , , , Classical phenylketonuria E Phenylketonuria Wilson's disease E Wilson disease /6
5 Other viral diseases Obstructive hypertrophic cardiomyopathy Alpha-1-antitrypsin deficiency Keratosis punctata (palmaris et plantaris) Other GM2 gangliosidosis B Wilson disease;not I Hypertrophic cardiomyopathy;not E Alpha-1-antitrypsin deficiency L Keratosis palmoplantaris papulosa E Gm2-gangliosidosis, late onset , Medullary cystic kidney Q Medullary cystic kidney disease Macular corneal dystrophy Osteogenesis imperfecta Niemann-Pick disease type C 3-methylglutaconic aciduria H Macular corneal dystrophy Type I Q Osteogenesis imperfecta type I E Niemann-Pick disease type C1 E Methylglutaconic aciduria type , , , , , , , , , , , , , , , , , , , Dressler's I Kindler's , Hermansky-Pudlak Metachromatic leukodystrophy E Hermansky-Pudlak 4 E Metachromatic leukodystrophy, adult type /6
6 Print this page 2014 Predicagen, LLC. 6/6
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