Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

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

Back To Top