| Code |
Description |
| (83891) X 1 |
Isolate DNA from blood of proband(s) with confirmed clinical diagnosis |
| (83898) X 27 |
PCR amplification for sequencing, two
promoters and 25 exons |
| (83898) X 27 |
QMPCR amplification for two promoters
and 25 exons |
| (83894) X 27 |
Separation by agarose gel
electrophoresis (2 promoters, 25 exons) |
| (83894) X 19 |
Separation by acrylamide gel
electrophoresis (14 exon pairs, 5 Q-grps) |
| (83902) X 8 |
Reverse Transcription PCR
(8 fragments) |
| (83898) X 8 |
Amplification for sequencing RNA |
| (83903) X 27 |
QMPCR mutation scanning, 25 exons and
2 promoters. |
| (83904) X 27 |
Mutation identification by sequencing,
25 exons and 2 promoters |
| (83912) X 2 |
Analysis and reports for referring
specialist, including draft letter for the client or
parents of client. |
| (various) X 1-2 |
Subsequent family members - call
for details |
