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 Gene Sequencing



Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Prenatal diagnosis
Lab Method:
Capillary Sequencing


Test Code:
Turnaround Time:
4-6 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube


CPT Codes:
New York Approved:
ABN Required:
Billing Information:
View Neurology Billing Policy
ICD Codes:
  • 348.3: Encephalopathy, not elsewhere classified
  • 251.2: Hypoglycemia, unspecified Hypoglycemia: NOS reactive spontaneous
  • 781: Abnormal involuntary movements, Abnormal head movements, Fasciculation, Spasms NOS, Tremor NOS
  • 374.3: Ptosis of eyelid
  • 780.6: Fever and other physiologic disturbances of temperature regulation
* For price inquiries please email


  1. HGMD Professional 2010.3
  2. Willemsen et al., (2010) Brain 133:1810-1822
  3. Pons R et al., (2010) Mov Disord 25(8): 1086-90
  4. Zafeiriou et al., (2009) Mol Genet Metab 97:18-20
  5. Clot et al., (2009) Brain 132: 1753- 1763
  6. Swoboda (2008) TH Deficiency
  7. Verbeek et al., (2007) Ann Neurol 62:422-426
  8. Ribases et al., (2007) Mol Genet Metab 92:274-277
  9. Schiller et al., (2004) Neurology 63:1524-1526
  10. Furukawa et al., (2001) Neurology 56:260-263
  11. Janssen et al., (2000) Ann Hum Genet 64:375-382
  12. Wevers et al., (1999) J Inher Metab Dis 22:364- 373
  13. Van den Heuvel et al., (1998) Hum Genet 102:644-6

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