Congenital Sideroblastic Anemia Panel
New York
Approved
Genes
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
*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.
Test Documents
Billing
Targeted Variant Testing