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Table 3 Techniques used for validation of the assays tested using the OpenArray™ plate

From: Optimization of simultaneous screening of the main mutations involved in non-syndromic deafness using the TaqMan® OpenArray™ Genotyping Platform

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