KIT-2 Exons (Rare) Test Cost and Procedure

KIT2 Exons Test: What Is It?

KIT gene mutations in exons 8 to 11 and 17 are found using this assay. In hematologic malignant neoplasms, these mutations take place (Myeloid leukaemia and mastocytosis). In these tumours, it finds mutations. This KIT mutation causes diminished apoptosis and increased cell proliferation. The exons are sequenced in order to identify the aforementioned alterations. Thus, a KIT gene mutation may result in mastocytosis and acute myeloid leukaemia, cancers of the blood and bone marrow marked by an excess of immature WBCs (mast cells accumulate in skin or internal organs)

Preparation for KIT2 Exons Test

Bringing prepared for the KIT2 Exons Test

For the examination, no unique preparation is required. However, if the doctor recommends performing additional tests, talk to the doctor.

KIT2 Exons Test Purposes

The examination finds KIT gene mutations. The test determines whether acute myeloid leukaemia is present. Additionally, it aids in mastocytosis diagnosis.

How to Perform the KIT2 Exons Test

A blood or saliva specimen is all that is required for an ordinary DNA examination. DNA will primarily be extracted from blood. After alcohol has been used to clean the skin's surface, the blood will be extracted. A fresh syringe will be used to extract the blood, and soon after, cotton will be administered to aid in the blood's clotting. The material is brought to a lab for analysis.

Specimen Requirements

Specimen

paraffin embedded tissue

Volume

1 block

Container

sterile sample container

Comprehensive Filtering  of Exons 2 Reveals a Elevated Number of Clinically Relevant Mutations

Background

The reaction to anti-epidermal expansion characteristic receptor Ab antidote for metastatic colorectal cancer is defined by the presence of clinically substantial modifications in the KRAS and NRAS genes .

Objective

Studying the incidence of clinically significant mutations in the KRAS and NRAS genes that are excluded from FDA-approved qPCR assays was the goal of this investigation.

Formalin-fixed, paraffin-embedded tumour samples from 1113 mCRC were used in the study.

Results

Of the samples that were examined for KRAS mutations, 33.69% did. 71.77% of these were in codon 12 and 276.9 percent were in codon 13. (both located in exon 2). For the remaining 0.54%, codons 59 (exon 3) and 146 (exon 4) were responsible. In codon 12 (3.61%) of the 83 specimens examined by NRAS, three mutations were discovered. If an FDA-approved qPCR diagnostic test had been employed, about 6% of RAS mutant specimens would have been mistakenly classified as RAS wild type.

Conclusions

Although these qPCR-based kits can be quite useful and sensitive, their mutation coverage excludes mutations from populations with low genetic characterization.