Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Independence Day, GeneDx will be closed on Friday, July 3rd, and Saturday, July 4th. Nevertheless, all specimens arriving on Friday, July 3rd will be accepted, accessioned and processed. We will not accept specimens on Saturday, July 4th. We will resume our normal Monday through Saturday schedule on Monday, July 6, 2015. Please also note that FedEx works on a modified schedule on Friday, July 3rd and FedEx and UPS are closed on Saturday, July 4th. 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:
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


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  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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