Serum tryptase for systemic mastocytosis, also skin biopsy.
New to this venue so a little late getting back to you. I have hairy cell,and the most definitive way to confirm the diagnosis is with a bone marrow biopsy. That can seem pretty dramatic, but when done by a doctor who knows what he is doing, it really is not that bad. My hematology/oncologist is great and I would highly recommend him if he is taking new patients. Dr. David Kutter at MGH in Boston. I had symptoms for more than a year before I saw him, and he diagnosed me in 2 days. HCL is pretty rare (less than 700 cases a year) and usually seen in men over 65, so not what they expected me to have being that I was a woman just turning 50! I had a round of chemo, a drug called cladrabine (sp?) which I took through a pic line which ran 24 hrs a day for 7 days. Not many side effects, I even worked every day while I was having it! Let me know if you have more questions I may be able to help with. It can be scary to hear this diagnosis, but most people can expect to live a pretty long life, even after the diagnosis,so I figure in the 10 yrs they said I had, they have plenty of time to come up with a cure!!
Best wishes to your mom as she goes through the process of figuring out what she has.
Hairy cell leukemia can usually be verified by Flow cytometry and/or a TRAP stain in a Hematology lab. Sometimes the "hairy cells" are rare, but a good laboratory can still pick it up on a slide or by the above mentioned methods. What are some symptoms of HCL? An enlarged spllen and pancytopenia are, I believe, the most common. Please let me know on this forum how your mom is.
From a quick google search, he's a Colon and Rectal Cancer specialist:
JEFF CLARK, MD
Massachusetts General Hospital
Dana Farber Cancer Institute
Assistant Professor in Medicine
Harvard Medical School
Boston, Massachusetts
There's more on him online:
http://www.google.com/search?hl=en&safe=off&q=%22Jeff+Clark%22+%22dana+farber%22