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Disease Name: Pyruvate dehydrogenase E2 deficiency
Genes Covered:
AARS2, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, AGK, AIFM1, AMACR, ATP5E, ATPAF2, BCS1L, BTD, C12orf65, COA5, COQ2, COQ4, COQ6, COQ8A, COQ9, COX10, COX15, COX6B1, CPT1A, CPT2, DARS2, DGUOK, DLAT, DLD, EARS2, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FH, FOXRED1, GCDH, GFM1, HADH, HADHA, HADHB, HCCS, HIBCH, HMGCL, HMGCS2, HSD17B10, ISCU, LIAS, LRPPRC, MARS2, MLYCD, MPV17, MRPL3, MRPS16, MRPS22, MTFMT, MTO1, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, OPA1, OXCT1, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PKLR, POLG, POLG2, PUS1, RARS2, RRM2B, SCO1, SCO2, SDHA, SLC19A3, SLC22A5, SLC25A19, SLC25A20, SLC25A4, SUCLA2, SUCLG1, SUGCT, SURF1, TACO1, TFAM, TK2, TMEM70, TPK1, TRMU, TSFM, TTC19, TUFM, TWNK, TXN2, TYMP, UQCRB, UQCRQ, YARS2Test Details | Pricing | |
Panel: Strand Mitochondrial Disorders Test Disorder Category: Disorders of fatty acid, ketone and energy metabolism Turnaround Time: 5-6 weeks from receipt of sample in the lab Sample Requirement:
Special Remarks: This test includes only nuclear genes encoding for the mitochondrial proteins that are important for normal mitochondrial function. This panel does not cover genes present in the mitochondrial genome. |
On request |