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Cystic Fibrosis Mutation Analysis
Test CodeCYSFIB
Includes
106 Mutation Panel
Preferred Specimen
3 mL EDTA whole blood
Minimum Volume
0.5 mL
Other Acceptable Specimens
ACD whole blood
Transport Container
Original collection vial
Transport Temperature
Ambient temperature
Report Available
7-10 days
Reference Range
An interpretive report will be provided.
Clinical Significance
Cystic fibrosis (CF), in the classic form, is a severe autosomal recessive disorder characterized by a varied degree of chronic obstructive lung disease and pancreatic enzyme insufficiency. The incidence of CF varies markedly among different populations, as does the mutation detection rate for the mutation screening assay.