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Leber hereditary optic neuropathy (LHON) – (DNAJC30 gene)

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Full name:
Leber hereditary optic neuropathy (LHON) – (DNAJC30 gene)
Description:

DNAJ/HSP40 Homolog Subfamily C, Member 30

NM_032317.3

7q11.23

1 exon from 227 AA => Sanger sequencing
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Carrier diagnosis,
Mutation confirmation,
Predictive and Pre-symptomatic diagnosis,
Therapeutic Management
Specimen:
Peripheral (whole) blood on EDTA
Method category:
Sequence analysis: entire coding region
Method technique:
Bi-directional Sanger Sequence analysis
Laboratory:
Centrum Medische Genetica - UZ Brussel VUB
RIZIV code:
565456-565460
Accreditation (ISO 15189):
2021-10-07 / 2026-06-14
Turnaround time (maximum):
8 weeks
Created:
14 Dec 2022 - 14:29
Changed:
11 Jan 2023 - 15:47