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Lactic Acidosis and Piruvate Metabolism (panel)
Call to order - 01707 707 560.
Online order will be available soon.
Description
.ADCK3 (CABC, COQ8), ATPAF2 (ATP12), GFM1 (EFG1), NDUFAF5 (C20ORF7), NDUFAF6 (C8ORF38), NDUFAF3 (C3ORF60), NDUFAF4 (C6ORF66), POLG (POLG1), SLC25A3 (PHC), SLC25A4 (ANT1), TYMP (ECGF1, TP)
Additional information
Samples | EDTA, LA, VC |
---|---|
Method of testing | NGS |
Turnaround Time (TAT) | 30-40 days |
Number of Genes | 69 |
Genes / Chromosomes / SNPs | ACAD9, ADCK3, APTX, ATP5E, ATPAF2, BCS1L, COQ2, COQ9, COX10, COX15, COX6B1, DARS2, DGUOK, DLAT, DLD, DNM1L, ETFA, ETFB, ETFDH, ETHE1, FBP1, FH, FOXRED1, G6PC, GFM1, GYS2, ISCU, LRPPRC, MRPS16, MRPS22, NDUFA11, NDUFAF1, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, POLG, PUS1, RRM2B, SCO2, SLC25A3, SLC25A4, SUCLA2, SUCLG1, SURF1, TAZ, TK2, TMEM70, TRMU, TSFM, TUFM, TYMP, UQCRB, YARS2 |