Table 3.
Techniques used for validation of the assays tested using the OpenArray™ plate
| Gene | Mutations analyzed | Techniques used to validate |
|---|---|---|
|
GJB2
|
p.N206S; p.E147K; p.W24X, c.167delT; c.235delC; p.V95M; p.S113R; p.M93I; p.E129K; p.V37I; p.L90P; p.R184P; p.W172X; p.R75Q; p.M34T; p.V153I; p.K168R; c.35delG; p.R184W |
Direct sequencing |
|
GJB6
|
c.6013G > T |
Multiplex PCR |
|
miR96/183
|
c.13G > A; c.14C > A |
Direct sequencing |
|
MT-RNR1
|
m.1555A > G |
RFLP-PCR |
| |
m.1494C > T |
RFLP-PCR |
|
MT-TS1
|
m.7445A > G |
RFLP-PCR |
|
SLC26A4
|
p.G149R; p.Q413R; p.V609G |
Direct sequencing |
|
OTOF
|
p.Q829X |
RFLP-PCR |
|
TMC1
|
p.S647P |
Direct sequencing |
| CRYL1 | c.1622 T > C | Direct sequencing |