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

TH Del/Dup



Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Prenatal diagnosis
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:
  • 374.3: Ptosis of eyelid
  • 780.6: Fever and other physiologic disturbances of temperature regulation
  • 781.1: Disturbances of sensation of smell and taste Anosmia Parageusia Parosmia
  • 348.3: Encephalopathy, not elsewhere classified
  • 251.2: Hypoglycemia, unspecified Hypoglycemia: NOS reactive spontaneous
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  1. Van den Heuvel et al., (1998) Hum Genet 102:644-6.
  2. Wevers et al., (1999) J Inher Metab Dis 22:364- 373
  3. Janssen et al., (2000) Ann Hum Genet 64:375-382
  4. Furukawa et al., (2001) Neurology 56:260-263
  5. Schiller et al., (2004) Neurology 63:1524-1526
  6. Ribases et al., (2007) Mol Genet Metab 92:274-277
  7. Verbeek et al., (2007) Ann Neurol 62:422-426
  8. Swoboda (2008) TH Deficiency
  9. Clot et al., (2009) Brain 132: 1753- 1763
  10. Zafeiriou et al., (2009) Mol Genet Metab 97:18-20
  11. Pons R et al., (2010) Mov Disord 25(8): 1086-90
  12. Willemsen et al., (2010) Brain 133:1810-1822
  13. HGMD Professional 2010.3

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