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Technology

SSCP Analysis

A procedure used to demonstrate nucleotide sequence variations that occur in the same region of DNA between individuals within a species, or between alleles in an individual to detect mutations in various genes, such as oncogenes, tumor suppressor genes, or genes responsible for genetic diseases. The method detects different conformations adopted by partially denatured DNA fragments resulting from their specific nucleotide sequences under denaturing conditions. Denatured single-stranded DNA fragments are allowed to partially renature without formation of double-stranded DNA. The particular conformations adopted by each of the renatured fragments depend on each of their specific nucleotide sequences. The fragments are run on polyacrylamide gels to detect subtle changes in migration due to their particular secondary structures. Resulting fragment band in the gel will misalign if any point mutations are present to alter the conformation.

Diagnostic Methods

Article

[Analysis of the Gene Mutation Distribution and Its Relationship with Prognosis in Patients with Primary Gastrointestinal Diffuse Large B-Cell Lymphoma by Next Generation Sequencing].

Research record from Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2026-06-01. PMID 42544655.

Article

[Next-Generation Sequencing-Based Detection of Gene Mutations and Its Association With Clinicopathological Features in Gastric Cancer].

Research record from Sichuan Da Xue Xue Bao Yi Xue Ban, 2026-03-01. PMID 42021891.

Article

A novel multiplex digital PCR assay for simultaneous quantification of androgen receptor amplification, mutations, and splice variants in cell-free nucleic acids from metastatic castration-resistant prostate cancer.

Research record from J Liq Biopsy, 2026-10-06. PMID 42893057.

Article

A single next generation sequencing assay for detection of driver mutations, rearrangements and copy number abnormalities in plasma cell dyscrasias.

Research record from Blood Cancer J, 2026-03-28. PMID 41904132.

Indicators

BARD1 Gene

This gene plays a role in cellular response and is susceptible to oncogenic mutations in breast and ovarian cancers.

Indicators

BCR/ABL1 Fusion Gene

A fusion gene that results from a translocation t(9;22)(q34;q11) that fuses the 5' part of the BCR gene to the 5' side of exon 2 of the ABL1 gene. There are 3 potential products that are formed depending on which BCR exon has the breakpoint. All of the protein products have constitutively active tyrosine kinase activity. This fusion is associated with both chronic myeloid leukemia and acute lymphoblastic leukemia.

Tests

BRAF Genetic Test

A BRAF genetic test uses a sample of tumor tissue, bone marrow, or blood to look for changes in a gene called BRAF . Changes in your genes are also called gene variants or mutations. The test is usually done to look for changes in the BRAF gene that may be involved in cancer .

For everyone & professionals

Tests

Calcitonin Test

A calcitonin test uses a sample of your blood to measure your levels of calcitonin, a hormone made in your thyroid gland by cells called “C cells.” Your thyroid is a small, butterfly-shaped gland in your neck, and C cells grow on the inside part of your thyroid (the medulla).

For everyone & professionals

Indicators

CEBPA Gene

This gene plays a role in body weight homeostasis and cellular proliferation. Mutations in the gene are associated with acute myeloid leukemia.

Article

Clinical Impact of Next-Generation Sequencing-Detected Mutations on Thrombotic Events in Myeloproliferative Neoplasms.

Research record from Int J Lab Hematol, 2026-04-27. PMID 42045100.

Article

Comparison of the somatic mutations in breast carcinomas in sporadic and BRCA1 carrier patients through targeted next generation sequencing.

Research record from Hum Pathol, 2026-04-27. PMID 42055234.

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