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.

PHEX Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
PHEX
Disorders:
Clinical Utility:
  • 1. Confirmation of the clinical diagnosis
  • 2. Differentiation between X-linked and dominant forms of the disease
  • 3. Determination of appropriate therapeutic approach
  • 4. 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:
81479x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 783.4: Lack of expected normal physiological development in childhood
  • 275.3: Disorders of phosphorus metabolism, Familial hypophosphatemia, Hypophosphatasia, Vitamin D-resistant: osteomalacia rickets
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Francis, F et al., Genomic Organization of the Human PEX Gene Mutated in X-Linked Dominant Hypophosphatemic Rickets Genome Research 7 573-585 (1997)
  2. Dixon, PH et al., Mutational Analysis of PHEX Gene in X-linked Hypophosphatemia J Clin Endocrin & Metab 83(10):3615-3623 (1998)
  3. Sabbagh, Y et al., PHEXdb, a Locus-Specific Database for Mutations Causing X-linked Hypophasphatemia Hum Mut 16:1-6 (2000)
  4. Jan, SM et al., Perspective: Molecular Pathogenesis of Hypophasphatemic Rickets J of Clin Endocrin & Metab 87(6):2467-2473 (2002)

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