COL1A1 c.3040C>T Arg836Cys Caffey Disease Sequencing
The coding exon and flanking intron sequences known to contain the mutation for Caffey disease are amplified by PCR in a single reaction, examined by polyacrylamide gel electrophoresis (PAGE), and sequenced by automated sequencing in 2 reactions. The mutation searched for is: COL1A1 c.3040C>T Arg836Cys in the triple helix.
Sensitivity: unknown
Turnaround time: 2 weeks