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Home  /  Otorhinolaryngology   /  Other methodologies   /  Mitochondrial nonsyndromic hearing loss and deafness: MT-RNR1 (m.961T>G, m.961_962delTinsC(n), m.1095T>C, m.1494C>T, m.1555A>G), MT-TL1 (m.3243A>G), MT-TS1 (m.7443A>G, m.7444G>A, m.7445A>G/C/T, m.7462C>T, m.7472dupC, m.7505T>C, m.7510T>C, m.7511T>C) genes – index case
Other methodologies, Otorhinolaryngology

Mitochondrial nonsyndromic hearing loss and deafness: MT-RNR1 (m.961T>G, m.961_962delTinsC(n), m.1095T>C, m.1494C>T, m.1555A>G), MT-TL1 (m.3243A>G), MT-TS1 (m.7443A>G, m.7444G>A, m.7445A>G/C/T, m.7462C>T, m.7472dupC, m.7505T>C, m.7510T>C, m.7511T>C) genes – index case

Speciality(ies) / Other Speciality(ies)

Otorhinolaryngology

Methodology

Sequencing

SNS Code

34776

OMIM

*561000

Gene Number

–

Test / Mutation List

MT-RNR1 (m.961T>G, m.961_962delTinsC(n), m.1095T>C, m.1494C>T, m.1555A>G), MT-TL1 (m.3243A>G), MT-TS1 (m.7443A>G, m.7444G>A, m.7445A>G/C/T, m.7462C>T, m.7472dupC, m.7505T>C, m.7510T>C, m.7511T>C)

TAT

2 to 4 weeks

Sample Type

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.

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