Genetic and laboratory tests for inherited marrow failure syndromes.
| Syndrome . | Inheritance pattern . | Gene . | Additional laboratory testing . |
|---|---|---|---|
| Fanconi anemia | Autosomal recessive | FANCA | Chromosome breakage |
| FANCC | |||
| FANCD1 | |||
| FANCD2 | |||
| FANCE | |||
| FANCF | |||
| FANCG | |||
| FANCI | |||
| FANCJ | |||
| FANCL | |||
| FANCM | |||
| FANCN | |||
| X-linked recessive | FANCB | ||
| Dyskeratosis congenita | X-linked recessive | DKC1 | Telomere length |
| Autosomal dominant | TERC | ||
| TERT | |||
| TINF2 | |||
| Autosomal recessive | NHP2/NOLA2 | ||
| NOP10/NOLA3 | |||
| Shwachman-Diamond syndrome | Autosomal recessive | SBDS | Serum trypsinogen, pancreatic isoamylase, fecal elastase, pancreatic imaging |
| Congenital amegakaryocytic thrombocytopenia | Autosomal recessive | C-MPL | |
| Diamond-Blackfan anemia | Autosomal dominant | RPS19 | Erythrocyte adenosine deaminase (ADA) |
| RPS17 | |||
| RPS24 | |||
| RPL35A | |||
| RPL11 |
| Syndrome . | Inheritance pattern . | Gene . | Additional laboratory testing . |
|---|---|---|---|
| Fanconi anemia | Autosomal recessive | FANCA | Chromosome breakage |
| FANCC | |||
| FANCD1 | |||
| FANCD2 | |||
| FANCE | |||
| FANCF | |||
| FANCG | |||
| FANCI | |||
| FANCJ | |||
| FANCL | |||
| FANCM | |||
| FANCN | |||
| X-linked recessive | FANCB | ||
| Dyskeratosis congenita | X-linked recessive | DKC1 | Telomere length |
| Autosomal dominant | TERC | ||
| TERT | |||
| TINF2 | |||
| Autosomal recessive | NHP2/NOLA2 | ||
| NOP10/NOLA3 | |||
| Shwachman-Diamond syndrome | Autosomal recessive | SBDS | Serum trypsinogen, pancreatic isoamylase, fecal elastase, pancreatic imaging |
| Congenital amegakaryocytic thrombocytopenia | Autosomal recessive | C-MPL | |
| Diamond-Blackfan anemia | Autosomal dominant | RPS19 | Erythrocyte adenosine deaminase (ADA) |
| RPS17 | |||
| RPS24 | |||
| RPL35A | |||
| RPL11 |