Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

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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