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Hereditary optic neuropathy, including Leber's Hereditary Optic Neuropathy (WES based NGS panel of 36 genes, including CNV analysis and 3 frequent mutations of mtDNA)
(ACO2, AFG3L2, ALG3, ATAD3A, AUH, C12orf65, C19orf12, CISD2, DNAJC19, DNM1L, GP1BA, KIF7, LYST, MFF, MFN2, MTPAP, NDUFS1, NDUFS2, NDUFS3, NEFH, NR2F1, OPA1, OPA3, POLG, RAB3GAP1, RTN4IP1, SDHA, SLC25A46, SLC52A2, SPG7, TBC1D20, TIMM8A, TMEM126A, TSFM, WFS1, YME1L1); (3 mut freq no mtDNA)
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Methodology

NGS,Sanger sequencing


Specimen Requirements


Descriptive Volume /
Concentration 1
Container Transport
temperature
Sample
viability (days) 2
DNA ≥ 100 µL [50 ng/µL] Eppendorf Safe-lock Room temp. n/a
Peripheral blood ≥ 3 mL EDTA Room temp. 5
1 When it is not possible to collect the minimum volume for the test, please contact CGC Genetics
2 Maximum shipping time to ensure sample quality

Turnaround Time (Days)

- 60

Specialties

- Rare diseases, Ophthalmology


CGC Reference

- 9143




Associated Tests


Hereditary optic neuropathy (WES based NGS panel of 36 genes, including CNV analysis)
Movement diseases (WES based NGS panel of 905 genes, including CNV analysis)
Inborn errors of metabolism (WES based NGS panel of 833 genes, including CNV analysis)
Inborn errors of metabolism (WES based NGS panel of 834 genes, including CNV analysis)
Movement diseases (WES based NGS panel of 929 genes, including CNV analysis)