What is Amyloidosis?
Abnormal accumulation of amyloid in an organ or tissue.
What is AIDS?
Acquired immune deficiency syndrome.
What is Peridonitis?
Peridonitis is an inflammatory condition of the periodontal ligaments (teeth), cementum, and alveolar bone.
What are Genetic Tests?
Diagnostic Methods and Indications for Testing Laboratory Considerations Indications for Analysis of Inherited Genetic Alterations Indications for Analysis of Acquired Genetic Alterations PCR and Detection of DNA Sequence Alterations Molecular Analysis of Genomic Alterations Fluorescence in Situ Hybridization (FISH) Multiplex…
What are Genetic Disorders Involving Sex Chromosomes?
Kleinfelter syndrome. XXY syndrome, male has an extra X chromosome. Turner syndrome. Monosomy X, female only has one X chromosome.
What is Tay-Sachs Disease?
Tay-Sachs disease is a lysosomal storage disease due to inability to metabolize GM2 gangliosides.
What is Niemann-Pick Disease?
Niemann-Pick disease is a lysosomal storage disease that results in lysosomal accumulation of sphingomyelin.
What is Prader-Willi Syndrome?
Prader-Willi syndrome is a genetic syndrome due to loss of function of genes on chromosome 15 inherited from the father. Prader-Willi syndrome may result in obesity, intellectual impairment, and behavioral problems.
What is Angelman Syndrome?
Angelman syndrome is a genetic disorder due to lack of function of part of chromosome 15 inherited from the mother or deletion of the UBE3A gene. Angelman syndrome may result in intellectual disability, movement abnormalities, and seizures.
What is Leber Hereditary Optic Neuropathy?
Leber hereditary optic neuropathy (LHON) is a mitochondrial mutation that results in sudden vision loss.