Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Labor Day, GeneDx will be closed and will not accept specimens on Monday, September 7, 2015.  We will resume our normal schedule on Tuesday, September 8, 2015.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

RNASEH2C Hot Spots (Pakistani)

FORMS AND DOCUMENTS

TEST DETAILS

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

ORDERING

Test Code:
4703
Turnaround Time:
4-5 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube
Alternative Specimen:
Oral Rinse (30-40 mL), Dried Blood Spots

BILLING

CPT Codes:
81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 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
  • 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
* 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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