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Bone Marrow Failure NGS Panel
- Next Generation Sequencing (NGS)
Testing is performed by Fulgent Genetics. A complete test description, including list of genes tested, is available here.
Gene list: AP3B1, BRCA2, BRIP1, CSF3R, CXCR4, DKC1, ELANE, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, G6PC3, GATA1, GATA2, GFI1, HAX1, LAMTOR2, LYST, MPL, NHP2, NOP10, PALB2, RAB27A, RAC2, RAD51C, RBM8A, RMRP, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, RTEL1, RUNX1, SBDS, SLC37A4, SLX4, SRP72, TAZ, TERC, TERT, TINF2, USB1, VPS13B, VPS45, WAS, WRAP53 (60 genes).
Specimen Requirements
Peripheral blood: two x 4 mL EDTA tubes
Storage and Transportation
Use cold pack for transport, making sure cold pack is not in direct contact with specimen. NYS clients please provide date and time of Collection.
CPT Code(s)*
81165x1, 81216x1, 81242x1, 81334x1, 81345x1, 81455x1
*The CPT codes provided with our test descriptions are based on AMA guidelines and are for informational purposes only. Correct CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed.
Biomarkers
DNA Sequencing
| SNVs + Indels | |||||
|---|---|---|---|---|---|
| ACD | BRCA2 | BRIP1 | CTC1 | DDX41 | DKC1 |
| ELANE | ERCC4 | G6PC3 | GFI1 | HAX1 | NHP2 |
| NOP10 | PALB2 | RAD51C | RPL11 | RPL15 | RPL26 |
| RPL35A | RPL5 | RPS10 | RPS17 | RPS19 | RPS24 |
| RPS26 | RPS7 | SLX4 | SRP72 | TERC | TERF1 |
| TERF2 | TERF2IP | TERT | THPO | TINF2 | WAS |
| WRAP53 | XRCC2 | ||||
RNA Sequencing
| Fusions | |||||
|---|---|---|---|---|---|
| CEBPA | CSF3R | FANCA | FANCB | FANCC | FANCD2 |
| FANCE | FANCF | FANCG | FANCI | FANCL | FANCM |
| GATA1 | GATA2 | MPL | POT1 | RTEL1 | SBDS |
| ETV6 | RUNX1 | ||||
Last Updated: January 28, 2026