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SALL1 Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
SALL1
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Risk assessment
  • Prenatal diagnosis - in families with an affected child and known mutation, or based on fetal ultrasound abnormalities
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
2521
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:
  • 744.3: Unspecified anomaly of ear Congenital: anomaly NOS of ear, NEC deformity NOS of ear, NEC
  • 751.2: Atresia and stenosis of large intestine, rectum, and anal canal Absence: anus (congenital) appendix, congenital large instestine, congenital rectum, Atresia of: anus colon rectum, Congenital or infantile: obstruction of large intestine occlusion of anus stricture of anus Imperforate: anus rectum Stricture of rectum, congenital
  • 744.2: Other specified anomalies of ear
  • 755.1: Of multiple and unspecified sites
  • 755.8: Other specified anomalies of unspecified limb
  • 755.01: Of fingers Accessory fingers
  • 744.02: Other anomalies of external ear with impairment of hearing Atresia or stricture of auditory canal (external)
  • 755.1: Syndactyly Symphalangy Webbing of digits
  • 755: Polydactyly
  • 759.89.1: Atresia and stenosis of large intestine, rectum, and anal canal
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Marlin, S. et al., Human Mutation 14: 377-386, 1999
  2. Kohlhase, J. et al., Am J Hum Genet. 64: 435-445, 1999
  3. Borozdin, W. et al., Human Mutation 867 (Online) 2006
  4. Botzenhart, E. et al., Human Mutation 26:282, 2005

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