Velocardiofacial Syndrome
Velocardiofacial Syndrome is suspected as a diagnosis based on clinical examination and the presence of the signs and symptoms of the syndrome.
A special blood test called FISH (fluorescence in situ hybridization) is then done to look for the deletion in chromosome 22q11.2. More than 95 percent of individuals who have Velocardiofacial Syndrome have a deletion in chromosome 22q11.2.
Those individuals who do not have the 22q11.2 deletion by standard FISH testing may have a smaller deletion that may only be found using more sophisticated lab studies such as comparative genomic hybridization, MLPA, additional FISH studies performed in a research laboratory or using specific gene studies to look for mutations in the genes known to be in this region. Again, these studies may only be available through a research lab.
Velocardiofacial Syndrome
OTHER RELATED INFORMATION
Velocardiofacial Syndrome is suspected as a diagnosis based on clinical examination and the presence of the signs and symptoms of the syndrome.
A special blood test called FISH (fluorescence in situ hybridization) is then done to look for the deletion in chromosome 22q11.2. More than 95 percent of individuals who have Velocardiofacial Syndrome have a deletion in chromosome 22q11.2.
Those individuals who do not have the 22q11.2 deletion by standard FISH testing may have a smaller deletion that may only be found using more sophisticated lab studies such as comparative genomic hybridization, MLPA, additional FISH studies performed in a research laboratory or using specific gene studies to look for mutations in the genes known to be in this region. Again, these studies may only be available through a research lab.
Velocardiofacial Syndrome
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