Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

Due to inclement weather, GeneDx will be closed for business, and we may be unable to accept specimens on Thursday, March 5, 2015. If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

PAH Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
PAH
Disorders:
Clinical Utility:
  • Confirmation of a biochemical diagnosis
  • Carrier testing for at-risk relatives
  • Risk assessment
  • Prenatal diagnosis in families with an affected child and known mutations
Lab Method:
Exon Array CGH

ORDERING

Test Code:
906
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 270.1: Phenylketonuria [PKU], Hyperphenylalaninemia
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Guldberg, P. et al., A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype . Am J Hum Genet. 63: 71-79, 1998
  2. PAHdb: http://www.pahdb.mcgill.ca

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