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Mitochondrial diseases (WES based NGS panel of 268 genes, including CNV analysis)
AARS2, ABAT, ABCB7, ACAD9, ACO2, AFG3L2, AGK, AIFM1, ANO10, APOPT1, APTX, ATAD3A, ATP5A1, ATP5D, ATP5F1, ATP5H, ATP5J2, ATP5L, ATP5L2, ATPAF1, ATPAF2, BCS1L, BOLA3, BTD, C12orf65, C19orf70, C1QBP, CA5A, CARS2, CHCHD10, CLPB, CLPP, COA3, COA4, COA6, COA7, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX11, COX14, COX15, COX16, COX17, COX18, COX19, COX20, COX6A1, COX6A2, COX6B1, COX6B2, COX7B, CYC1, CYCS, DARS2, DCC, DGUOK, DLAT, DLD, DNA2, DNAJC19, DNM1L, DNM2, EARS2, ECHS1, ELAC2, ERAL1, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FDX2, FDXR, FH, FLAD1, FOXRED1, G6PC, GARS, GATB, GATC, GDAP1, GFER, GFM1, GFM2, GLRX5, GTPBP3, HARS2, HCCS, HIBCH, HLCS, HSD17B10, HSPD1, HTRA2, IARS2, IBA57, IDH3A, IDH3B, ISCA2, ISCU, KARS, LARS2, LIAS, LIPT1, LIPT2, LONP1, LRPPRC, LYRM7, MARS2, MDH2, MECR, MFF, MFN2, MGME1, MICU1, MIPEP, MPC1, MPV17, MRM2, MRPL3, MRPL44, MRPS14, MRPS16, MRPS2, MRPS22, MRPS34, MSTO1, MTFMT, MTO1, MTPAP, NADK2, NARS2, NAXE, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFA4, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFAF8, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NSUN3, NUBPL, OPA1, OPA3, PARS2, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PITRM1, PMPCA, PMPCB, PNPLA8, PNPT1, POLG, POLG2, POLRMT, PPA2, PTCD1, PTCD3, PUS1, QARS, QRSL1, RARS2, RMND1, RNASEH1, RRM2B, RTN4IP1, SACS, SARS2, SCO1, SCO2, SDHA, SDHAF1, SDHAF3, SDHAF4, SDHB, SDHD, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC25A1, SLC25A12, SLC25A19, SLC25A21, SLC25A26, SLC25A3, SLC25A32, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SPATA5, SPG7, STAT2, SUCLA2, SUCLG1, SURF1, TACO1, TARS2, TAZ, TFAM, TIMM22, TIMM50, TIMM8A, TIMMDC1, TK2, TMEM126B, TMEM65, TMEM70, TOP3A, TPK1, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TSFM, TTC19, TUFM, TWNK, TYMP, UQCC1, UQCC2, UQCC3, UQCR10, UQCR11, UQCRB, UQCRC2, UQCRQ, VARS2, WARS2, XPNPEP3, YARS2, YME1L1
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Methodology

NGS


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, Metabolic Diseases


CGC Reference

- 5655




Associated Tests


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)
Epilepsy (WES based NGS panel for 596 genes, including CNV analysis)
Hereditary ataxias (WES based NGS panel of 214 genes, including CNV analysis)
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (WES based NGS panel of 178 genes, including CNV analysis)