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.

FAH Select Exons Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
FAH
Disorders:
Clinical Utility:
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
3662
Turnaround Time:
2-3 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:
  • 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
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Bergman et al., (1998) Hum Mutat 12 :19-26
  2. Rootwelt et al., (1994) Am J Hum Genet 55 :1122-1127
  3. Grompe et al., (1994) N Engl J Med 11(6):353-7
  4. St-Louis, M. and Tanguay R.M. (1997) Hum Mutat 9 :291- 299
  5. Arranz et al., (2002) Hum Mutat 20:180-188

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