In observance of the holiday, GeneDx will be closed for business on Thursday, November 27, 2014, and will be unable to receive and process specimens. FedEx and UPS will also not operate. We will accept specimens on Friday, November 28, and will resume our normal work schedule on Saturday, November 29, 2014. If you have any questions or inquiries, please call us at 301-519-2100 or email us at firstname.lastname@example.org.
FAH Gene Sequencing
FORMS AND DOCUMENTS
- Clinical Utility:
- Confirmation of biochemical diagnosis
- Carrier testing
- Prenatal diagnosis in at risk pregnancies
- Lab Method:
- Capillary Sequencing Reflex to Exon Array
- Test Code:
- Turnaround Time:
- 5-6 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
- CPT Codes:
- New York Approved:
- ABN Required:
- Billing Information:
- View Billing Policy
- ICD Codes:
- 796.6: Abnormal findings on neonatal screening
- 270.2: Other disturbances of aromatic amino-acid metabolism, Albinism, Alkaptonuria, Alkaptonuric ochronosis, Disturbances of metabolism of tyrosine and tryptophan, Homogentisic acid defects, Hydroxykynureninuria Hypertyrosinemia, Indicanuria, Kynureninase defects, Oasthouse urine disease, Ochronosis, Tyrosinosis, Tyrosinuria, Waardenburg syndrome
- Bergman et al., (1998) Hum Mutat 12 :19-26.
- Rootwelt et al., (1994) Am J Hum Genet 55 :1122-1127.
- Grompe et al., (1994) N Engl J Med 11(6):353-7.
- St-Louis, M. and Tanguay R.M. (1997) Hum Mutat 9 :291- 299.
- Arranz et al., (2002) Hum Mutat 20:180-188.