Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel

Forms and Documents

Test Details

AARS2, ACAD9, ACO2, AFG3L2, AIFM1, APOPT1, ATP5A1, ATP5E, ATPAF2, AUH, BCS1L, BOLA3, C12ORF65, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ9, COX10, COX14, COX15, COX20, COX6B1, COX8A, CYC1, DARS2, DGUOK, DLAT, DLD, DNM1L, EARS2, ECHS1, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FH, FOXRED1, GCDH, GFER, GFM1, GFM2, GTPBP3, GYG2, HMGCL, HTRA2, IARS2, IBA57, ISCA2, LARS2, LIAS, LIPT1, LRPPRC, LYRM7, MARS2, MFF, MFN2, MPC1, MPV17, MRPL44, MRPS22, MTFMT, MTPAP, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB11, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NUBPL, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PNPT1, POLG, RARS2, RMND1, RRM2B, SCO1, SCO2, SDHA, SDHAF1, SERAC1, SLC19A3, SLC22A5, SLC25A46, SUCLA2, SUCLG1, SURF1, TACO1, TARS2, TK2, TMEM70, TPK1, TRMU, TSFM, TTC19, TUFM, TWNK, TYMP, UQCC2, UQCC3, UQCRQ, VARS2
  • 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

575
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81404x2, 81405x4, 81406x3
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Baertling et al. (2014) J. Neurol. Neurosurg. Psychiatry 85 (3):257-65 (PMID: 23772060)
  2. Tucker et al. (2010) Curr Neurol Neurosci Rep 10 (4):277-85 (PMID: 20446063)
  3. Gerards et al. (2016) Mol. Genet. Metab. 117 (3):300-12 (PMID: 26725255)