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Differential Diagnosis For DNATest specific/genetics laboratory/abnormality (Lab): Hereditary, Familial, Genetic Disorders


List of current finding(s):

Hereditary, Familial, Genetic Disorders: next: Degenerative-Age Related Causes
Granulomatous dis/childhood, chronic
Sickle cell trait
Mediterranean fever, periodic
Factor IX deficiency (Christmas dis)
Sickle cell anemia
Basal cell nevus syndrome (Gorlin)
Colon polyposis, familial adenomatous
Cystic fibrosis (mucoviscidosis)
Duchenne's Muscular Dystrophy/Pseudohypertrophic
Ehlers-Danlos syndrome
Fragile X syndrome/X-linked retardation
Huntington's chorea
Marfan's syndrome
Multiple endocrine adenomas/hereditary
Peroneal muscular atrophy(Charcot Mar.)
Polycystic kidney disease
Spinal muscle atrophy
Spinal muscle atrophy, infantile
Juvenile spinal muscle atrophy (Kugelberg-Welander)
Pitt syndrome (4p16.3)
Cardiomyopathy, hereditary
Dominant SCA/Spinal Cerebellar ataxias
Canavan disease
Dentatorubral-Pallidoluysian Atrophy (DRPLA)
Endocrine adenomata, type 1 (MEA1)
Facioscapulohumeral muscular dystrophy
Factor V Leiden mutation
Fanconi's pancytopenia-dysmelia synd
Friedreich's Ataxia
Hypothalamic hypogonadism, Kallman's
Keratosis follicularis (Darier Disease)
Myotonia atrophica (Steinert's disease)
Myotonia congenita (Thomsens d.)
Oculopharyngeal muscular dystrophy
Pseudoxanthoma elasticum
Severe combined immunodeficiency synd/SCID
Smith-Lemli-Opitz syndrome
Spinal muscle atrophy/adult type IV
Spinocerebellar ataxia, Hered/Type I
Spinopontine Atrophy /MJD disease
Von Hipple-Lindau disease/Retinocerebellar angiomas
Waardenburg-Klein syndrome
Williams syndrome/Elfin facies
Congenital Muscular Dystrophy
Emery-Dreifuss Muscular Dystrophy/Limb Girdle type
Mitochondral gene/deafness
Welander syndrome (See Kugelberg Welander)