Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

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

Back To Top