Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

Forms and Documents

Test Details

ACAD9, AGK, AIFM1, ATP5E, ATPAF2, BCS1L, BOLA3, C12ORF65, CARS2, COQ2, COQ4, COQ7, COQ8A, COQ9, COX10, COX14, COX15, COX6B1, CYC1, DARS2, DGUOK, DLAT, DLD, DNM1L, EARS2, ECHS1, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FBXL4, FDX1L, FH, FOXRED1, GFER, GFM1, GTPBP3, GYG2, HMGCL, HTRA2, IBA57, ISCU, LARS, LARS2, LIAS, LIPT1, LRPPRC, LYRM4, LYRM7, MFF, MPC1, MPV17, MRPL12, MRPL44, MRPS16, MRPS22, MRPS7, MTFMT, MTO1, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA9, NDUFAF1, NDUFAF3, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NFS1, NFU1, PARS2, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PNPT1, POLG, POLG2, PUS1, RARS2, RMND1, RNASEH1, RRM2B, SARS2, SCO2, SDHAF1, SERAC1, SFXN4, SLC25A26, SLC25A3, SLC25A4, SUCLA2, SUCLG1, SURF1, TARS2, TAZ, TK2, TMEM70, TPK1, TRMT10C, TRMU, TRNT1, TSFM, TTC19, TUFM, TWNK, TYMP, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, YARS2
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial disorder
  • Prenatal diagnosis for known familial mutation(s) in nuclear genes in at-risk pregnancies.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

576
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x3, 81406x5
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Gray et al. (2014) Cell. Mol. Life Sci. 71 (14):2577-604 (PMID: 24363178)
  2. Sperl et al. (2014) Journal Of Inherited Metabolic Disease : (PMID: 25526709)
  3. Tarnopolsky et al. (2005) Med Sci Sports Exerc 37 (12):2086-93 (PMID: 16331134)