Method of testing

[DriedSeaweed]

I am curious how samples are collected to see if you are notch1 or complex karyotype. Do they need bone marrow or is blood good enough? Are these typically part of a more comprehensive "version" of FISH? I hopefully do not need to know for a while.

[Shepherd777]

Some fish tests (blood work not a bone marrow test) seem to be more detailed than others. If you have 3 or more chromosomes affected such as 13q, 11q, and 17 p deletion, etc. you are complex karyotype.

[Cllcanada Top Poster CURE Hero]

These tests are not used in the clinic outside of a few CLL research hospitals..., maybe some day.

NOTCH1 Gene Sequencing

Methodology

Molecular

Test Description

Bi-directional sequencing of exons 26, 27, and 34 is performed for detection of sequence variant mutations. Testing can be performed on plasma when adequate leukemic cells are not available.

Clinical Significance

NOTCH1 mutations are common in T-ALL, CLL, and mantle cell lymphoma. Mutations in ALL are associated with good prognosis, while mutations in CLL and mantle cell lymphoma are associated with poor prognosis.

Specimen Requirements

Peripheral blood: 5 mL in EDTA tube.

Bone marrow: 2 mL in EDTA tube.

Storage and Transportation

Use cold pack for transport, making sure cold pack is not in direct contact with specimen.

neogenomics.com/test-menu/n...

Complex Karyotype, CK is done with chromosome banding analyses, CBA and fluorescence in situ hybridization, but Next Generation Sequencing, NGS may also be used. CK was defined as the presence of three or more chromosomal abnormalities in a single clone.

ncbi.nlm.nih.gov/pmc/articl...

ncbi.nlm.nih.gov/pmc/articl...

~chris

[DriedSeaweed in reply to Cllcanada]

So it looks like a little is needed. Bummer.

[virdieblue]

My Notch 1 was found through a blood check only.

Virginia

[DriedSeaweed]

Oh? That would be preferable. I know my doctor would prefer that too. She had to put all her body weight into my last bone marrow biopsy.