25 October 2016 (Tuesday) - Fanconi's Anaemia

Back in the day Fanconi’s anaemia was diagnosed by excluding everything else. Now it seems there is a genetic marker. The link I found was rather simplistic, but I learned about the FAN-1 marker

DODGER,Roger The                                     B+        25/10/2016 13:30 MST      11/11/2015   Male     987654321          Paediatric out patients 1 Hight Street Fulchester,                    Dr Julian Bashir Fanconi anaemia? Genetic test requested for FAN1.     U Specimen No   :  AK543210X               Selected Auth Level : S --------------------T-------------------T-------------------T-------------------  HB    ^11.7   Q000 |MONO   0.7    Q000 |~F4   ^            |PAR  WBC    13.3   Q000 |EOS    0.3    Q000 |~F5   ^            |HBA2  PLT    453    Q000 |BASO   0.0    Q000 |~F6   ^            |HBF  RBC    4.74   Q000 |FR    ^REF    Q000 |  HBG    117    Q000  HCT    0.329  Q000 |RETI               |~F8   ^            |  MCV    69.4   Q000 |E                  |~F9   ^            |  MCH    24.7   Q000 |G                  |~F10  ^            |  MCHC  ^35.6   Q000 |~F1   ^ATL    Q008 |HBEL               |  NEUH   3.0    Q000 |~F2   ^HBDEF  Q008 |SIC                |  LYMPH  9.2    Q000 |~F3   ^            |MP                 | --------------------T-------------------T-------------------T------------------- LTG comments : EP,F.,FR,MP,RETI

All I need to do now is find out the specifics of the test. But (as with anything new) identifyingh that there *is*  something new is half the battle