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POR Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
POR
Disorders:
Clinical Utility:
  • 1. Confirmation of a clinical and/or biochemical diagnosis
  • 2. Carrier testing in at-risk family members
  • 3. Prenatal diagnosis for known mutations
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
339
Turnaround Time:
8-10 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:
  • 755.59: Other Cleidocranial dysostosis Cubitus: valgus, congenital varus, congenital
  • 756: Anomalies of skull and face, bones; Absence of skull, bones; Acrocephaly; Congenital deformity of forehead; Craniosynostosis; Crouzon's disease; Hypertelorism; Imperfect fusion of skull; Oxycephaly; Platybasia; Premature closure of cranial sutures; Tower skull Trigonocephaly Excludes: acrocephalosyndactyly [Apert's syndrome] (755.55) dentofacial anomalies (524.0-524.9) skull defects associated with brain anomalies, such as: anencephalus (740.0) encephalocele (742.0) hydrocephalus (742.3) microcephalus (742.1)
  • 255.2: Adrenogenital disorders, Adrenogenital syndromes,
  • 754.89: Other Club hand (congenital) Congenital: deformity of chest wall dislocation of elbow, Generalized flexion contractures of lower limb joints, congenital Spade-like hand (congenital)
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Fluck et al. (2004) Curr Opin Pediatr 18:435-441
  2. Reardon et al. (2000) J Med Genet 37:26-32
  3. Scott et al. (2008) Horm Res 69:266-275
  4. Huang et al. (2005) Am J Hum Genet 76:729-749
  5. Fukami et al. (2005) J of Clin Endocrinol Metab 90(1):414-426

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