Clonality analysis and C-kit somatic mutation analysis

laboratorio Genefast

Clonality analysis

Introduction

We consider the Clonality Test to be our most important service and one of our major goals is the continued improvement of this test . For example, in 2016, we improved the preanalytical phase by introducing newly automated technology dedicated to DNA extraction from FFPE samples. We developed an internal flowchart similar to, and in accordance with that proposed by Keller and Colleagues, and it has been implemented over time. However, more than 10 years of research regarding clonality has taught Genefast that dicotomous nodes cannot guarantee a correct diagnosis if the clonality pattern is not integrated with clinical, morphological and pathological data. Furthermore, the17025 accreditation of the Clonality Test is undergoing; this represents a really challenging goal due to the fact that Veterinary Medicine lacks harmonized methods, protocols and quality assessment (PT).

Sample
– Cytological samples (better if stained and checked by the pathologist); direct smears, cytospin-prepared slides or fluid can also be sent.
– Biopsy or tissue
– Histological sections mounted on glass (also already stained as above so we can be confident that we are working with the same sample; in this case, it is better if at least 2 sections can be sent (in order to have an abundance of material). The pathologist could also mark a specific area on the slide which is that preferred to be analyzed

The best matrix is represented by fresh samples or cytological samples. Concerning histological sections, formalin could break down DNA; therefore, if possible, other matrices are preferred. Staining does not interfere with PCR.

In general, it would be appreciated if you could send us a copy of the report so that we can understand what type of tissue we are working with.

Price and TAT
The price for Clonality tests is: 100 euro (VAT excluded)
The turnaround time for all the analysis is 15 working days.
Please, use the specific Clonality test form.

C-KIT SOMATIC MUTATION ANALYSIS

Introduction
Kit constitutive activation and kit aberrant localization may be due to either somatic mutations of the c-kit gene and post-transductional mutations of the immature or mature protein. It is for this reason that Webster et al. have indicated testing both c-kit gene mutations (originally, they only indicated ex 11) and the cellular localization of the KIT protein by IHC (2007; where they found c-kit mutations in 16% of the MCTs evaluated). In addition to exon 11 ITDs, additional less common mutations have been described in exons 8 and 9, and they have been included in our test (Letard et al., 2008).
Our analysis included the following mutation tests:
– Ex 11: internal tandem duplication (ITD), insertions and deletions
– Ex 8: point mutation Q430R, insertions and deletions
– Ex 9: point mutation S479I, point mutation N508I
-Ex 17: point mutation c.2443 G>C

Sample
– Cytological samples (better if stained and checked by the pathologist); direct smears, cytospin-prepared slides or fluid can also be sent
– Biopsy or tissue
– Histological sections mounted on glass (also already stained as above so we can be confident that we are working with the same sample; in this case, it is better if at least 2 sections can be sent (in order to have an abundance of material). The pathologist could also mark a specific area on the slide which is that preferred to be analyzed.

The best matrix is represented by fresh samples or cytological samples. Concerning histological sections, formalin could break down DNA; therefore, if possible, other matrices are preferred. Staining does not interfere with PCR.

In general, it would be appreciated if you could send us a copy of the report so that we can understand what type of tissue we are working with.

Price and TAT
The price for C-kit test is: 120 euro (VAT excluded)
The turnaround time for all the analysis is 15 working days.
Please, use the specific form C-kit somatic mutation analysis