Tests for inherited marrow failure syndromes.
| Disease . | Gene . | Inheritance Pattern . | Helpful Additional Laboratory Tests . | Research Tests . |
|---|---|---|---|---|
| *ADA levels are variably elevated in patients with Diamond-Blackfan anemia. | ||||
| Fanconi Anemia | FANCA | Autosomal Recessive | MMC or DEB chromosomal breakage | FANCD2 mono-ubiquitination |
| FANCC | Autosomal Recessive | |||
| FANCD1 | Autosomal Recessive | |||
| FANCD2 | Autosomal Recessive | |||
| FANCE | Autosomal Recessive | |||
| FANCF | Autosomal Recessive | |||
| FANCG | Autosomal Recessive | |||
| FANCI | Autosomal Recessive | |||
| FANCJ | Autosomal Recessive | |||
| FANCL | Autosomal Recessive | |||
| FANCM | Autosomal Recessive | |||
| FANCB | X-linked Recessive | |||
| ? | ||||
| Dyskeratosis Congenita | DKC1 | X-linked Recessive | None | Telomere length |
| TERC | Autosomal Dominant | |||
| TERT | Autosomal Dominant | |||
| ? | Autosomal Recessive | |||
| Diamond-Blackfan Anemia | RPS19 | Autosomal Dominant | Elevated red cell adenosine deaminase (ADA)* | |
| ? | ||||
| Shwachman-Diamond Syndrome | SBDS | Autosomal Recessive | Decreased serum trypsinogen and/or pancreatic isoamylase | SBDS protein expression |
| ? | ||||
| Disease . | Gene . | Inheritance Pattern . | Helpful Additional Laboratory Tests . | Research Tests . |
|---|---|---|---|---|
| *ADA levels are variably elevated in patients with Diamond-Blackfan anemia. | ||||
| Fanconi Anemia | FANCA | Autosomal Recessive | MMC or DEB chromosomal breakage | FANCD2 mono-ubiquitination |
| FANCC | Autosomal Recessive | |||
| FANCD1 | Autosomal Recessive | |||
| FANCD2 | Autosomal Recessive | |||
| FANCE | Autosomal Recessive | |||
| FANCF | Autosomal Recessive | |||
| FANCG | Autosomal Recessive | |||
| FANCI | Autosomal Recessive | |||
| FANCJ | Autosomal Recessive | |||
| FANCL | Autosomal Recessive | |||
| FANCM | Autosomal Recessive | |||
| FANCB | X-linked Recessive | |||
| ? | ||||
| Dyskeratosis Congenita | DKC1 | X-linked Recessive | None | Telomere length |
| TERC | Autosomal Dominant | |||
| TERT | Autosomal Dominant | |||
| ? | Autosomal Recessive | |||
| Diamond-Blackfan Anemia | RPS19 | Autosomal Dominant | Elevated red cell adenosine deaminase (ADA)* | |
| ? | ||||
| Shwachman-Diamond Syndrome | SBDS | Autosomal Recessive | Decreased serum trypsinogen and/or pancreatic isoamylase | SBDS protein expression |
| ? | ||||