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BTK Gene Sequencing & Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
BTK
Disorders:
Clinical Utility:
  • Confirmation of clinical diagnosis
  • Distinguish among the various forms of primary immunodeficiency
  • Determination of appropriate treatment, including instituting prophylaxis
  • Carrier testing in female relatives of affected males
  • Prenatal diagnosis in at-risk pregnancies
Lab Method:
Capillary Sequencing, Exon Array CGH

ORDERING

Test Code:
154
Turnaround Time:
4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube
Alternative Specimen:
Oral Rinse (30-40 mL)

BILLING

CPT Codes:
81406x1, 81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
* For ICD9 to ICD10 conversion please follow this link https://www.aapc.com/icd-10/codes/
ICD-9 Codes:
  • 279: Hypogammaglobulinemia, unspecified Agammaglobulinemia NOS
  • 279.04: Congenital hypogammaglobulinemia, Agammaglobulinemia: Bruton's type X-linked
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Conley ME et al, 2005, Genetic analysis of patients with defects in early B-cell development, Immunological Reviews 203:216.
  2. Mutations of the human BTK gene coding for Bruton tyrosine Kinase in X-linked agammaglobulinemia, 1999, Vihinen, M et al, Human Mutation 13:280-285.

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