MODY Mutation Analysis Panel
MODY (Maturity Onset Diabetes of the Young) is a rare form of diabetes distinct from Type I and Type II diabetes. It is an autosomal dominant disorder with low prevalence and genetic heterogeneity. MODY typically manifests before the age of 25, regardless of ethnic background, nutrition, or body weight. Recommended genes for analysis include:
MODY2: GCK (glucokinase)
MODY3: HNF1A (hepatocyte nuclear factor 1-alpha)
MODY1: HNF4A (nuclear factor 4-alpha)
MODY5: HNF1B (hepatocyte nuclear factor 1 beta)
MEN (Multiple Endocrine Neoplasia) Gene Panel
Tumors causing MEN syndromes arise from neuroendocrine APUD cells and follow an autosomal dominant inheritance pattern. MEN-1 is rare, with a prevalence of 0.02–0.2 per 1,000 individuals. MEN-1 is characterized by hyperplasia or adenomas of the parathyroid glands, involvement of pancreatic islets, and pituitary tumors. Additional tumors observed in MEN-1 include VIPoma, glucagonoma, somatostatinoma, and PPoma. The MEN-1 gene is located on the long arm of chromosome 11 and is likely a tumor suppressor gene.
HBOC (Hereditary Breast and Ovarian Cancer) Panel
BRCA gene mutations account for approximately 50% of familial breast cancer cases. About 33% of women diagnosed with breast cancer under age 30 carry one of these mutations. Ovarian cancer ranks fifth among cancer-related deaths in women, with 5–10% having a family history, frequently associated with BRCA1 or BRCA2 mutations. Women who inherit these mutations have significantly increased risk of breast and ovarian cancer. For patients negative for BRCA mutations, a PIBOC panel including ATM, BARD1, BRIP1, CDH1, CHEK2, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, and TP53 is recommended.
Hotspot Cancer Mutation Panel
Although each tumor type has unique features, molecular abnormalities often occur in known pathways. Hotspot mutations—mutations in DNA segments encoding specific protein domains—play a key role in cancer development and targeted therapy research. This panel includes:
ABL1, AKT1, ALK, APC, ATM, BRAF, CDH1, CDKN2A, CSF1R, CTNNB1, EGFR, ERBB2, ERBB4, EZH2, FBXW7, FGFR1, FGFR2, FGFR3, FLT3, GNAI1, GNAS, GNAQ, HNF1A, HRAS, IDH1, JAK2, JAK3, IDH2, KDR, KIT, KRAS, MET, MLH1, MPL, NOTCH1, NPM1, NRAS, PDGFRA, PIK3CA, PTEN, PTPN11, RB1, RET, SMAD4, SMARCB1, SMO, SRC, STK11, TP53, VHL
Hereditary Cancer Syndromes Mutation Panel
Inactivation of tumor suppressor genes (TSGs) predisposes individuals to cancer and hereditary cancer syndromes. Mutations in TSGs are passed through germline inheritance and significantly increase cancer risk. Genes included:
NBN, BARD1, CDH1, MRE11A, ATM, PTEN, STK11, RAD51C, PALB2, BRIP1, MSH6, RAD51, CHEK2, TP53
Primary Immunodeficiency Panel
Primary immunodeficiency arises from absence or dysfunction of components of the immune system, either hereditary or genetic. Hundreds of primary immunodeficiency types have been identified. Genes analyzed include:
ISG15, TNFRSF4, PIK3CD, MASP2, C1QA, C1QC, C1QB, FCN3, LCK, AK2, CTPS1, ARTN, C8A, C8B, IL2RB2, BCL10, GFI1, NRAS, VPS45, RFX5, HAX1, ADAR, LAMTOR2, FCGR3B, CD247, FASLG, NCF2, CFH, CFHR3, CFHR1, PTPRC, IL10, CR2, CD46, LYST, NLRP3, ADA, STAT1, STAT4, CASP10, CASP8, CTLA4, ICOS, … (and others)
Autoinflammatory Fever Panel (FMF / AAA)
Familial Mediterranean Fever (FMF) is an autosomal recessive disorder characterized by recurrent fever, synovial, peritoneal, or pleural inflammation, and associated pain. Renal failure due to amyloidosis is the most serious complication. FMF is prevalent among Turkish, Armenian, Arab, and non-Ashkenazi Jewish populations. Genes analyzed include:
MDFIC, TNFAIP3, TMEM173, PSMA3, PSMB4, PSMB9, IL36RN, NLRP3, MVK, NOD2, PSTPIP1, TNFRSF1A, CARD14, LPIN2, NLRP12, IL1ORA, CECR1, IL10RB, IL1RN, PSMB8, ELANE, MEFV
Hereditary Colorectal Cancer Panel
Colorectal cancer is among the most common cancers worldwide. Individuals with a family history of colorectal cancer have higher risk. Genes included:
MLH1, MSH2, MSH6, PMS2, EPCAM, TGFBR2, MLH3, APC, MUTYH, MSH3, NTHL1
Solid Tumor Panel & Adult Cancer Molecular Profiling
These panels provide advanced genomic analysis of solid tumors and hematologic malignancies from FFPE, fresh tissue, or blood-derived nucleic acids. They detect SNVs, Indels, CNVs, gene fusions, and expression changes using Next Generation Sequencing (NGS).
The Adult Cancer Molecular Profiling Test detects 161 genes for point mutations, CNVs, gene fusions, and Indels. Low-input samples (as little as 10 ng DNA/RNA from FFPE) can be analyzed. Reports include mutation-treatment relationships, clinical trials, and literature references.
Tumor Mutation Burden (TMB) Analysis
TMB measures the number of mutations in a tumor genome and is a key biomarker for immuno-oncology research. High TMB is associated with better response to immunotherapy and is assessed via whole exome sequencing (WES).