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ARSE Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
ARSE
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Carrier testing in female relatives
  • Prenatal diagnosis in families with a defined mutation
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
282
Turnaround Time:
6-8 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:
  • 756.59: Chondrodysplasia punctata epiphysealis
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Brunetti-Pierri, N. et al. (2003) X-Linked Recessive Chondrodysplasia Punctata: Spectrum of Arylsulfatase E Gene Mutations and Expanded Clinical Variability Am J Med Genet 117A:164-168
  2. Sheffield, L.J. et al. (1998) Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chodrodysplasia punctata J Med Genet 35:1004-1008
  3. Franco B. et al. (1995) A Cluster of Sulfatase Genes on Xp22.3: Mutations in Chondrodysplasia Punctata(CDPX) and Implications for Warafin Embryopathy Cell 81:15-25.

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