Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holidays, GeneDx will be closed for business on Thursday, December 25, 2014 and on Thursday, January 1, 2015. We will be unable to receive and process specimens. FedEx and UPS will also not be in operation. Except for the aforementioned dates, GeneDx will operate on our normal schedule (Monday-Saturday), including December 24th and December 31st.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

AGS Tier 2

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
RNASEH2A, RNASEH2B, RNASEH2C
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Development of an appropriate management plan
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
4702
Turnaround Time:
9-10 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View 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. Rice, G., et al., (2007) Am J Hum Genet 80:811-815
  2. Giroud et al., (1986) Childs Nerv Syst 2:47-48.
  3. Aicardi, J. and F. Goutieres, (2000) Neuropediatrics 31:113.
  4. Crow et al., (2008) Dev Med Child Neurol. 50:410-416.
  5. Kuijpers et al., (2002) Eur J Paediatr Neurol 6 Suppl A: A59-64; discussion A65-6, A77-86.
  6. Goutieres et al., (1998) Ann Neurol, 1998. 44:900-907.
  7. Tolmie et al., (1995) J Med Genet. 32: 881-884
  8. Bonnemann et al., (1992). Neuropediatrics. 23:157-161
  9. Lebon et al., (1988) J Neurol Sci 84:201-208

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