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Comprehensive SCID Panel

New York
Approved


Genes

ADA, AK2, ATM, CD3D, CD3E, CD3Z, CORO1A, DCLRE1C (ARTEMIS), DOCK8, FOXN1, IL2RG, IL7R, JAK3, LIG4, NHEJ1, ORAI1, PNP, PRKDC, PTPRC, RAC2, RAG1, RAG2, RMRP, STIM1, TBX1, ZAP70

Conditions

  • LIG4 Syndrome
  • Neutrophil Immunodeficiency Syndrome
  • Purine Nucleoside Phosphorylase Deficiency
  • Reticular Dysgenesis
  • Severe Combined Immune Deficiency (SCID)

Clinical Utility

  • Differential diagnosis for the multiple types of SCID
  • Follow-up testing after confirmed abnormal neonatal screen for T cell deficiency
  • Post-mortem diagnosis and mutation identification in recessive or X-linked SCID using parental DNA
  • Confirmation of a clinical diagnosis
  • Carrier testing in at-risk family members
  • Prenatal diagnosis

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Test Code

601

CPT Codes*

81405x1, 81408x1, 81479x1

ABN Required

No

Turnaround Time**

3 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.