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.
FORMS AND DOCUMENTS
- Clinical Utility:
- Confirmation of a clinical diagnosis.
- Differential diagnosis: Dietary vitamin A deficiency, vitamin A deficiency resulting from a lack of lipoprotein (Bassen-Kornzweig syndrome), a lack of serum retinoid-binding protein, gyrate atrophy or choroideremia.
- Carrier testing for family members of an affected individual with known mutation(s).
- Prenatal diagnosis in at-risk pregnancies
- Lab Method:
- Exon Array CGH
- Test Code:
- Turnaround Time:
- 3-4 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
- CPT Codes:
- 84311x1, 88271x10, 88291x1
- New York Approved:
- ABN Required:
- Billing Information:
- View Billing Policy
- ICD Codes:
- 743.53: Chorioretinal degeneration, congenital
- 368.61: Congenital night blindness, Hereditary night blindness, Oguchi's disease
- 368.69: Other night blindness
- 368.6: Night blindness, unspecified
- 368.63: Abnormal dark adaptation curve, Abnormal threshold of cones or rods, Delayed adaptation of cones or rods
- Dryja TP (2000) Am J Ophthalmol 130(5):547-63
- Niwa et al., (2005) Invest Ophthalmol Vis Sci 46(4):1480-5
- Nakamura et al., (2000) Invest Ophthalmol Vis Sci 41(12):3925-32
- Nakamura et al. (2003) Doc Ophthalmol 107(1):3-11
- Liden et al., (2001) J Biol Chem 276(52):49251-7
- Driessen et al., (2001) Ophthalmology 108(8):1479-84
- Yamamoto H et al., (1999) Nat Genet 22:188-91