Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

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 zebras@genedx.com.

PTS Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
PTS
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. Romstad et al., (1999) Clin Chem 45:2102-2108
  2. Opppliger et al., (1997) Hum Mutat 10:25-35
  3. Kluge et al., (1996) Eur J Biochem 240:477-484
  4. Oppliger et al., (1995) J Biol Chem 270:29498-29506
  5. Liu et al., (2001) Clin Chim Acta 313:157-169
  6. Blau et al., (2000) Hum Mutat 16:54-60
  7. Longo (2009) J Inher Metab Dis 32:333-342
  8. Scherer-Oppliger et al., (1999) Hum Mutat 13:286-289
  9. Shintaku (2002) Curr Drug Metab 3:123-131
  10. Dudesek et al., (2001) Eur J Pediatr 160:267-276
  11. BIOMDB: Database of Mutations Causing Tetrahydrobiopterin Deficiencies (database online) (http://www.biopku.org/BioPKU_DatabasesBIOMDB.asp) curated by N. Blau, Beat Thöny
  12. Thony and Blau (2006) Hum Mutat 27:870-878
  13. Leuzzi et al., (2010) Clin Genet 77:249-257
  14. Thony et al., (1994) Am J Hum Genet 54:782-792

Back To Top