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 zebras@genedx.com.

AGS Panel

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
RNASEH2A, RNASEH2B, RNASEH2C, TREX1
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Development of an appropriate management plan
  • Prenatal diagnosis in families with a defined mutation
  • Carrier testing
Lab Method:
Next-gen Sequencing

ORDERING

Test Code:
547
Turnaround Time:
6-8 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x4
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Neurology Billing Policy
ICD Codes:
  • 333: Other degenerative diseases of the basal ganglia, Atrophy or degeneration: olivopontocerebellar [Déjérine-Thomas syndrome], pigmentary pallidal [Hallervorden-Spatz disease], striatonigral Parkinsonian syndrome associated with: idiopathic orthostatic hypotension symptomatic orthostatic hypotension Progressive supranuclear ophthalmoplegia Shy-Drager syndrome
  • 315.9: Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS
  • 779: Convulsions in newborn, Fits in newborn, Seizures in newborn
  • 333.6: Genetic torsion dystonia Dystonia: deformans progressiva, musculorum deformans (Schwalbe-), Ziehen-Oppenheim disease
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Lebon et al., (1988) J Neurol Sci 84:201-208
  2. Bonnemann et al., (1992). Neuropediatrics. 23:157-161
  3. Tolmie et al., (1995) J Med Genet. 32: 881-884
  4. Goutieres et al., (1998) Ann Neurol, 1998. 44:900-907.
  5. Kuijpers et al., (2002) Eur J Paediatr Neurol 6 Suppl A: A59-64; discussion A65-6, A77-86.
  6. Crow et al., (2008) Dev Med Child Neurol. 50:410-416.
  7. Aicardi, J. and F. Goutieres, (2000) Neuropediatrics 31:113.
  8. Giroud et al., (1986) Childs Nerv Syst 2:47-48.
  9. Rice, G., et al., (2007) Am J Hum Genet 80:811-815

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