Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holiday, GeneDx will be closed for business on Thursday, November 27, 2014, and will be unable to receive and process specimens. FedEx and UPS will also not operate. We will accept specimens on Friday, November 28, and  will resume our normal work schedule on Saturday, November 29, 2014.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

TH Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
TH
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Prenatal diagnosis
Lab Method:
Exon Array CGH

ORDERING

Test Code:
906
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
84311x1, 88271x10, 88291x1
New York Approved:
Yes
ABN Required:
Yes
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
* For price inquiries please email zebras@genedx.com

REFERENCES

  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 http://www.genetests.org
  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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