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.

QDPR Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
QDPR
Disorders:
Clinical Utility:
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
Lab Method:
Capillary Sequencing Reflex to Exon Array

ORDERING

Test Code:
381
Turnaround Time:
4-5 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:
  • 270.1: Phenylketonuria [PKU], Hyperphenylalaninemia
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Kalkanoglu et al., (2001) Prenat Diagn 21:868-870
  2. Farrugia et al., (2007) Mol Genet Metab 90:277-283
  3. Dianzani et al., (1998) Hum Mutat 12:267-273
  4. Romstad et al., (2000) Hum Genet 107:546-553
  5. Smooker et al., (1999) Hum Mutat 13(6):503-4
  6. BIOMDB: Database of Mutations Causing Tetrahydrobiopterin Deficiencies (database online)

Back To Top