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.

GCH1 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
GCH1
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Selection of appropriate treatment
  • 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:
  • 781: Abnormal involuntary movements, Abnormal head movements, Fasciculation, Spasms NOS, Tremor NOS
  • 270.1: Phenylketonuria [PKU], Hyperphenylalaninemia
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Furukawa Y, (2009) Gene Reviews GTPCH1-Deficient DRD
  2. Clot F et Al., (2009) Brain 132: 1753-1763
  3. Thony B and Blau N, (2006) Hum Mutat 27:870- 878
  4. Hagenah et Al., (2005) Neurology 64:908-911
  5. Furukawa Y et Al., (1998) Neurology 50:1015-20
  6. Furukawa Y et Al., (1998) Ann Neurol 44: 10-16
  7. Bandmann O et Al., (1996) Hum Molec Genet 5:403-406
  8. Ichinose H et Al., (1994) Nat Genet 8:236-242
  9. Muller Y et Al., (1998) Neurogenetics 1:165-177
  10. Zirn B et Al., (2008) J Neurol Neurosurg Psych 79:183-186
  11. Furukawa Y, (2004) Adv Neurol 94:127-138
  12. Muller U et Al., (2002) J Neural Transm 109:321-328

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