Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel

Forms and Documents

Test Details

ACO2, AUH, C12ORF65, CLPB, DGUOK, DNA2, DNAJC19, DNM1L, EARS2, FH, GYG2, ISCA2, MFF, MFN2, MGME1, MTFMT, MTO1, MTPAP, NARS2, NDUFAF3, NR2F1, OPA1, OPA3, PDHX, PDSS1, POLG, POLG2, RNASEH1, RRM2B, SLC19A2, SLC19A3, SLC25A4, SLC25A46, SPG7, SUCLA2, TACO1, TIMM8A, TK2, TMEM126A, TSFM, TWNK, TYMP, VARS2, WFS1
  • 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

577
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81404x1, 81405x3, 81406x3
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Yu-Wai-Man et al. (2011) Prog Retin Eye Res 30 (2):81-114 (PMID: 21112411)
  2. Oliveira et al. (2005) Dev Med Child Neurol 47 (3):185-9 (PMID: 15739723)
  3. Chinnery P. Mitochondrial Disorders Overview 2000 Jun 8 [Updated 2014 Aug 14]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.n
  4. van Adel et al. (2009) Journal Of Clinical Neuromuscular Disease 10 (3):97-121 (PMID: 19258857)
  5. Zhu et al. (2009) Acta Biochim. Biophys. Sin. (Shanghai) 41 (3):179-87 (PMID: 19280056)
  6. Fratter et al. (2011) Neurology 76 (23):2032-4 (PMID: 21646632)
  7. Milone et al. (2010) Neurologist 16 (2):84-91 (PMID: 20220442)
  8. Stewart et al. (2008) Neurology 71 (22):1829-31 (PMID: 19029523)
  9. Spiegel et al. (2012) American Journal Of Human Genetics 90 (3):518-23 (PMID: 22405087)
  10. Pilz et al. (2017) J Optom 10 (4):205-214 (PMID: 28040497)