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QDPR Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
QDPR
Disorders:
Clinical Utility:
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
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:
84311x1, 88271x10, 88291x1
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. 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)

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