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Congenital Sideroblastic Anemia Panel

New York
Approved


Genes

ABCB7, ALAS2, GLRX5, PUS1, SLC19A2, SLC25A38, TRNT1, YARS2

Conditions

  • Pearson Syndrome
  • Pyridoxine-Refractory Sideroblastic Anemia
  • Sideroblastic Anemia
  • Sideroblastic Anemia with Spinocerebellar Ataxia
  • Thiamine-Responsive Megaloblastic Anemia Syndrome (TRMA)

Clinical Utility

  • Mitochondrial genome large deletion testing
  • Confirmation of a clinical diagnosis
  • To assist in determining the most appropriate therapy, as the response to specific therapeutic modalities depends on the diagnosis
  • Targeted testing for a known familial variant
  • Prenatal diagnosis for known familial variants in nuclear genes in at-risk pregnancies
  • Genetic counseling

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Test Code

938

CPT Codes*

81465x1, 81479x1

ABN Required

No

Turnaround Time**

4 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

*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.