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CYBA Del/Dup

FORMS AND DOCUMENTS

• Test Info Sheet
• Test Requisition
• Informed Consent

TEST DETAILS

Genes:

CYBA

Disorders:

• Chronic Granulomatous Disease (CGD)

Clinical Utility:

• Confirmation of clinical or laboratory diagnosis.
• Identification of the involved gene and the specific mutation to permit accurate genetic counseling.
• Carrier testing or rapid diagnosis in relatives
• Prenatal diagnosis

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

Billing Information:

View Billing Policy

ICD Codes:

• 288.1: Functional disorders of polymorphonuclear neutrophils, Chronic (childhood) granulomatous disease, Congenital dysphagocytosis, Job's syndrome, Lipochrome histiocytosis (familial), Progressive septic granulomatosis

REFERENCES

1. Yu G et al, 2008, Focus on FOCIS: The continuing diagnostic challenge of autosomal recessive chronic granulomatous disease.
2. Heyworth PG, et al, 2001, Hematologically Important Mutations: X-linked chronic granulomatous disease (second update), Blood Cells Molecules and Diseases 27:16.

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