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 Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
PTS
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:
380
Turnaround Time:
4-5 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

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

Back To Top