Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holidays, GeneDx will be closed for business on Thursday, December 25, 2014 and on Thursday, January 1, 2015. We will be unable to receive and process specimens. FedEx and UPS will also not be in operation. Except for the aforementioned dates, GeneDx will operate on our normal schedule (Monday-Saturday), including December 24th and December 31st.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at

DLD Del/Dup



Clinical Utility:
  • 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
Lab Method:
Exon Array CGH


Test Code:
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube


CPT Codes:
84311x1, 88271x10, 88291x1
New York Approved:
ABN Required:
Billing Information:
View Billing Policy
ICD Codes:
  • 277.87: Disorders of mitochondrial metabolism, Kearns-Sayre syndrome, Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS syndrome), Mitochondrial Neurogastrointestinal Encephalopathy syndrome (MNGIE), Myoclonus with Epilepsy and with Ragged Red Fibers (MERRF syndrome), Neuropathy, Ataxia and Retinitis Pigmentosa (NARP syndrome)
  • 425.1: Hypertrophic obstructive cardiomyopathy, Hypertrophic subaortic stenosis (idiopathic)
  • 276.2: Acidosis Acidosis
  • 389.1: Sensorineural hearing loss, unspecified
  • 250: Diabetes mellitus
  • 330.8: Other specified cerebral degenerations in childhood, Alpers' disease or gray-matter degeneration, Infantile necrotizing encephalomyelopathy, Leigh's disease, Subacute necrotizing, encephalopathy or encephalomyelopathy
* For price inquiries please email


  1. Milone, M. and Massie, R. (2010) Neurologist 16:84-91
  2. Stewart et al., (2008) Neurology 71:1829-31
  3. Chinnery, P. Gene Reviews (2006) Mitochondrial Disorders Overview
  4. Zhu et al., (2009) Acta Biochim Biophys Sin 41:179-187
  5. Oliveira et al., (2005) Dev Med Child Neurol 47:185-189
  6. Tarnopolsky, M and Raha S. (2005) Med Sci Sports Exerc 37:2086-93
  7. van Adel, B. and Tarnopolsky, M. (2009) J Clin Neuromusc Dis 10:97-121
  8. Longo, N. (2003) Neurol Clin N Am 21:817-831
  9. Bennett S.(2004) Pharmacogenomics 5:433-8
  10. Spinazzola et al., (2009) J Inherit Metab Dis 32:143-58

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