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Less Common and Rare Cancer NGS Panels

General Cancer Testing | Brain & CNS Cancer | Breast & Ovarian Cancer | Colorectal & Prostate Cancer | Endocrine & Thyroid Cancer | Gastric Cancer | Hematologic Cancer | Kidney Cancer | Lung Cancer | Pancreatic Cancer | Skin Cancer & Melanoma | Solid Tumors | Less Common Cancers

On this page different NGS panels are listed that are not included in any of the other mentioned categories. Not for all classes of cancer specific NGS panels are available. 

For more information on the NGS panels and the targeted genes please contact the NGS panel provider, general information on less common and rare cancers are found on the and NHI National Cancer Institute websites.

Hyperparathyroidism Cancer

Invitae Hyperparathyroidism Panel

The Invitae Hyperparathyroidism Panel analyzes five genes associated with hereditary hyperparathyroidism (HPT). These genes were curated based on the available evidence to date and provide Invitae’s most comprehensive test for individuals and families with features of HPT.
Individuals with a pathogenic variant in one of the genes on this panel have a higher risk of developing parathyroid disease—a disease that can be difficult both to detect and to treat.
Source: Invitae

Liver Cancer

Human Liver Cancer Panel

The Human Liver Cancer GeneRead DNAseq Targeted Panel is a collection of multiplexed PCR primer assays for targeted enrichment of the coding (exonic) regions of the 33 genes most commonly mutated in human liver cancer samples. Mutations in these oncogenes and tumor suppressor genes are often relevant for tumor classification, and warrant extensive investigation to enhance the understanding of carcinogenesis. Hepatocellular carcinoma (HCC), the most common form of liver cancer, has a poor prognosis and low survival rate. The second most common form of liver cancer is cholangiocarcinoma, a cancer of the bile ducts.
Source: Qiagen


Invitae Sarcoma Panel

This test analyzes up to 40 genes that are associated with a hereditary predisposition to the development of sarcomas—particularly bone and soft tissue sarcoma that can be found in any part of the body. These genes were selected based on the available evidence to date to provide Invitae’s most comprehensive hereditary sarcoma panel. Many of these genes are also associated with an increased risk of other cancer types.
In addition to the primary panel, clinicians can also choose to include four genes that have limited evidence of association with sarcoma.
Source: Invitae

Other Tests


This test especially aids in a differential diagnosis of similar phenotypes, rules out particular syndromes, and provides the analysis of multiple genes simultaneously. Individuals who are suspected of any of these disorders, especially if clinical diagnosis is unclear, and individuals who have been found to be negative by mutation analysis for a single gene test are candidates. Laboratory findings that support the diagnosis include: protein levels, chromosome translocations, immunodeficiency, and radiosensitivity demonstrated by in vitro assay. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue.
Source: Prevention Genetics

Comprehensive Inherited Bone Marrow Failure Panel

Our Comprehensive Inherited Bone Marrow Failure Panel includes sequence analysis of the following 49 genes: C16orf57, CTC1, DKC1, NOLA3, NHP2, RTEL1, TERC, TERT, WRAP53, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCI, FANCL, FANCM, PALB2, RAD51C, SLX4, XRCC2, RPL11, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, CSFR3, ELANE, G6PC3, GFI1, HAX1, VPS45, WAS, GATA2, MPL, RBM8A, RUNX1, SBDS, SBF2, SRP72.

Source: The University of Chicago Genetic Services

Endometrial Cancer Panel


Source: GeneDx

Invitae Constitutional Mismatch Repair-Deficiency Panel

This test analyzes the genes associated with constitutional mismatch repair-deficiency (CMMR-D), which is a childhood cancer predisposition syndrome. Individuals who have biallelic pathogenic variants in any one of these genes can develop CMMR-D.
Source: Invitae

Uterine cancer panel, targeted

Tested genes EPCAM, MLH1, MSH2, MSH6, PMS1, PMS2, PTEN

Source: Centogene


Testing specific genetic alterations as potential therapeutic targets in malignant tumors: individualized oncotherapy at PentaCore Laboratory!
Before the application of the available drugs – depending on the type of the tumor - three different genes are examined (KRAS, BRAF, EGFR). Besides these genes, there are other known variations that can affect the therapeutic response.

Source: Pentacorelab

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