Leigh syndrome, NGS

Metabolic Disorders Panel

21 days

Next Generation Sequencing

Genelist (104): AIFM1, ALDH5A1, ARX, ATP5MD, BCS1L, BTD, CLPB, COA5, COQ9, COX10, COX14, COX15, COX6B1, COX8A, CPT2, DLAT, DLD, DNM1L, EARS2, ECHS1, ETHE1, FARS2, FASTKD2, FBXL4, FOXRED1, GCDH, GFM1, GFM2, GTPBP3, HIBCH, IARS2, KCNQ2, LIAS, LIPT1, LRPPRC, MFF, MMUT, MRPS34, MTFMT, MTRFR , NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NUBPL, PC, PDHA1, PDHB, PDHX, PDP1, PDSS2, PET100, PET117, PNPT1, POLG, PTCD3, SCO1, SCO2, SCP2, SDHA, SDHAF1, SERAC1, SLC19A3, SLC25A19, SLC25A46, SLC39A8, SQOR, SUCLA2, SUCLG1, SUOX, SURF1, TACO1, TARS2, TIMMDC1, TLR3, TMEM126B, TPK1, TRMU, TSFM, TTC19, UQCRB, UQCRQ

Accredited NRL Laboratory

Once a week

Genetic identification of Leigh syndrome; guide prognosis and therapeutic interventions.

Peripheral Blood

5-7 mL whole blood OR DNA ≥ 100 µL

Lavender-top (EDTA) tube

No special preparation is required for this test. You may eat, drink, and take your medications as normal, unless instructed otherwise by your healthcare provider.

This test does not require any special collection or pre-analytical handling. Follow routine specimen collection protocols.