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 email@example.com.
RNASEH2C Hot Spots (Pakistani)
FORMS AND DOCUMENTS
- Clinical Utility:
- Confirmation of a clinical diagnosis
- Development of an appropriate management plan
- Lab Method:
- Capillary Sequencing
- Test Code:
- Turnaround Time:
- 4-5 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
- CPT Codes:
- New York Approved:
- ABN Required:
- 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
- Lebon et al., (1988) J Neurol Sci 84:201-208
- Bonnemann et al., (1992). Neuropediatrics. 23:157-161
- Tolmie et al., (1995) J Med Genet. 32: 881-884
- Goutieres et al., (1998) Ann Neurol, 1998. 44:900-907.
- Kuijpers et al., (2002) Eur J Paediatr Neurol 6 Suppl A: A59-64; discussion A65-6, A77-86.
- Crow et al., (2008) Dev Med Child Neurol. 50:410-416.
- Aicardi, J. and F. Goutieres, (2000) Neuropediatrics 31:113.
- Giroud et al., (1986) Childs Nerv Syst 2:47-48.
- Rice, G., et al., (2007) Am J Hum Genet 80:811-815