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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:
84311x1, 88271x10, 88291x1
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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