Complement Gene Panel Sequencing

Creative Biolabs' complement genetic test service provides comprehensive, research-focused genetic analysis for complement pathway genes associated with complement deficiency, dysregulation, recurrent infection, hereditary angioedema, renal disease, autoimmune phenotypes, and complement-mediated inflammatory disorders. Our team builds the right genetic testing strategy around your scientific question.

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Why Complement Genetic Testing Matters

Complement testing has traditionally relied on functional assays, antigen quantification, hemolysis assays, deposition assays, and complement activation product measurements. These tools remain indispensable because complement biology is dynamic, concentration-dependent, and influenced by sample handling. However, functional readouts do not always reveal why a pathway is abnormal, whether a defect is inherited, whether family members may carry a related risk, or whether a variant may affect response to complement-targeted therapy.

By identifying sequence variants, copy number changes, structural rearrangements, and risk-associated haplotypes in complement-related genes, genetic analysis can clarify the molecular basis behind abnormal complement function. Our complement genetic test service is designed for investigators, biotechnology companies, academic medical centers, and therapeutic developers. When requested, genetic findings can be correlated with complement activity testing, C3b deposition assays, C5b-9 quantification, C1-INH functional analysis, C1q binding assays, CH50/AH50 testing, autoantibody profiling, or cell-based complement assays.

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Testing Strategies We Offer

Targeted Single-Gene Testing

Single-gene testing is suitable when clinical, biochemical, or functional data strongly point to one gene. Targeted testing provides deep coverage and focused interpretation.

Customized Complement Gene Panel

A customized complement gene panel is often the best choice for overlapping phenotypes or when multiple genes may explain a pathway abnormality. Creative Biolabs can build panels around classical, lectin, alternative, terminal, regulatory, receptor, or disease-focused gene sets.

Whole-Exome Sequencing

Whole-exome sequencing is recommended when prior targeted testing is negative, when the phenotype is atypical, or when new candidate genes may be involved. WES can capture coding regions across the genome while allowing focused analysis of complement-related genes first.

Whole-Genome Sequencing Support

Whole-genome sequencing can detect coding variants, intronic variants, noncoding regions, structural variants, copy number changes, and complex genomic rearrangements more comprehensively than panel sequencing or WES.

Copy Number and Structural Variant Analysis

Complement genes contain regions of segmental duplication and high sequence homology. Copy number variation, hybrid genes, deletions, duplications, and rearrangements can play important roles in complement-mediated disease research. Creative Biolabs can incorporate CNV analysis and orthogonal confirmation when needed.

Expanded Immune and Inflammatory Disease Panel

For complex cohorts with recurrent infection, autoimmunity, renal inflammation, angioedema, or atypical inflammatory phenotypes, complement genes may be analyzed alongside immune deficiency genes, inflammasome genes, coagulation-related genes, endothelial injury genes, and other modifiers.

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What We Test

Complement Deficiency Gene Testing

Our testing can include genes encoding complement components and regulators.

Alternative Pathway Dysregulation

Design panels covering CFH, CFI, CD46, C3, CFB, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, THBD, DGKE, PLG, and other genes.

Hereditary Angioedema and C1-Inhibitor Pathway Analysis

Support SERPING1 sequencing, deletion/duplication analysis, variant testing, and expanded gene panels.

C3 Glomerulopathy and Renal Complement Research

Study complement regulators and activators, including CFH, CFI, CD46, C3, CFB, CFHR genes, and related modifiers.

Genes Commonly Included in Complement Genetic Test Panels

Creative Biolabs can customize gene content according to each project. Commonly analyzed genes include:

Classical Pathway Genes - C1QA, C1QB, C1QC, C1R, C1S, C2, C4A, C4B
These genes are relevant to classical pathway activation, immune complex handling, and early complement deficiency research. Variants may be investigated in recurrent infection, autoimmune-like phenotypes, and abnormal CH50 results.
Lectin Pathway Genes - MBL2, MASP1, MASP2, FCN1, FCN2, FCN3, COLEC10, COLEC11
Lectin pathway genes may be included for projects focused on microbial recognition, mannose-binding lectin deficiency, inflammatory susceptibility, or MASP-targeted therapeutic development.
Alternative Pathway Genes - C3, CFB, CFD, CFP
Alternative pathway genes are central to amplification loop activity. Activating or regulatory-impact variants may be studied in aHUS, C3 glomerulopathy, renal disease, complement-mediated inflammation, or therapeutic response research.
Complement Regulatory Genes - CFH, CFI, CD46, CD55, CD59, CR1, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5
Regulatory genes are essential for preventing uncontrolled complement activation on host tissue. Variants, deletions, duplications, hybrid genes, or haplotypes in these loci can be highly relevant to alternative pathway dysregulation research.
Terminal Pathway Genes - C5, C6, C7, C8A, C8B, C8G, C9
Terminal pathway genes are relevant to membrane attack complex formation. Genetic testing may be paired with C5b-9 functional assays, CH50 testing, or infection susceptibility studies.
Angioedema-Related Genes - SERPING1, F12, PLG, ANGPT1, KNG1, MYOF, HS3ST6, and project-specific candidates
These genes can be used for hereditary angioedema research, especially when C1-INH antigen or activity assays are inconclusive or when normal-C1-INH angioedema is being investigated.

Design Your Test Panels

Sample Requirements

Creative Biolabs offers flexible sample input options. Requirements may vary depending on testing method, sample quality, and project scale.

Whole Blood

Preferred for germline DNA extraction.
EDTA blood is commonly used for DNA testing.
Typical volume: depending on workflow.
Ship under recommended temperature conditions.
Avoid repeated freeze-thaw cycles.

Genomic DNA

High-quality genomic DNA is accepted.
Lower input may be possible for targeted panels.
Provide extraction method, concentration, purity, and storage history when available.

Saliva or Buccal Swabs

Suitable for non-invasive germline DNA collection.
Recommended for family studies or remote collection.
DNA quality may vary; additional QC is required.
Not ideal when high-depth or complex CNV analysis is required.

Cell Pellets or Cultured Cells

Useful for engineered cell lines, iPSC-derived models, primary cells, or in vitro complement studies.
Provide cell number, passage number, species, and genetic engineering history.
Mycoplasma status and culture conditions may be requested for research projects.

Add-On Assays That Strengthen Interpretation

Genetic findings are most powerful when connected to function. Creative Biolabs offers a broad range of complementary assays to help determine whether a detected variant has biological significance.

Assays	Descriptions
Complement Function/Activity Tests	CH50, AH50, and pathway-specific functional assays can identify classical, alternative, or terminal pathway impairment. These assays help determine whether a genetic variant corresponds to measurable pathway dysfunction.
Individual Component Activity Tests	Component-specific assays for C2, C3, C5, Factor B, Factor D, Factor H, Factor I, properdin, C1 inhibitor, C1 complex, and C5b-9 can help validate the functional consequence of variants.
Complement Activation Product Tests	C3a, C3b, iC3b, C3d, C4d, C5a, and sC5b-9 measurements provide insight into active pathway engagement and complement turnover.
C3b Deposition Assay	C3b deposition assays can determine whether variants alter complement opsonization, alternative pathway amplification, convertase activity, or inhibitor responsiveness.
C1-INH Functional Assay	For hereditary angioedema research, C1-INH functional analysis can be paired with SERPING1 genetic testing to evaluate whether a variant affects protein function.
Autoantibody Testing	Factor H autoantibodies, C3 nephritic factor, C4 nephritic factor, C5 nephritic factor, and other complement autoantibodies can be measured to distinguish genetic predisposition from acquired dysregulation.

Design Your Customization

Case Studies

Case 1

CFH and CFHR structural variants in atypical Hemolytic Uremic Syndrome

Atypical hemolytic uremic syndrome (aHUS) is a rare disease that manifests with microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure, and is associated with dysregulation of the alternative complement pathway. The chromosomal region including CFH and CFHR1-5 is rich in repeated sequences, favoring genomic rearrangements that have been reported in several patients with aHUS. In this study, the researchers reported the results of CFH-CFHR Copy Number Variation (CNV) analysis and the characterization of resulting structural variants (SVs) in a large cohort of patients. These data highlight that uncommon CFH-CFHR SVs are frequent in primary aHUS and quite rare in secondary forms.

CFH-CFHR structural variants in aHUS. (OA Literature) Fig. 1 Patient with a hybrid CFH1-21::CFHR15-6 gene and a de novo CFHR3-CFHR1 duplication.^1,2

References

Piras, Rossella, et al. "CFH and CFHR structural variants in atypical Hemolytic Uremic Syndrome: Prevalence, genomic characterization and impact on outcome." Frontiers in immunology 13 (2023): 1011580. https://doi.org/10.3389/fimmu.2022.1011580
Distributed under Open Access license CC BY 4.0, without modification.

What Our Clients Say

"Creative Biolabs helped us transform a scattered complement research question into a clear genetic testing strategy. We initially approached the team with functional assay results showing abnormal alternative pathway activity, but we were unsure which genes should be prioritized. Their scientists recommended a customized panel covering complement regulators, activators, CFHR-region genes, and renal modifier genes. The final report was well organized, scientifically detailed, and directly useful for our follow-up experiments."

— Director of Translational Research, Complement Therapeutics Company

"Compared with standard sequencing vendors, Creative Biolabs provided much more pathway-aware interpretation. We were not only given variant calls, but also explanations of how specific genes may influence convertase regulation, C3 activation, C5b-9 formation, and disease-associated complement dysregulation. Their recommendations helped us select the most appropriate functional assays for several variants of uncertain significance."

— Principal Investigator, Academic Immunology Laboratory

"Our study involved a small cohort of patients with suspected complement-mediated renal disease. The Creative Biolabs team designed a panel that included CFH, CFI, CD46, C3, CFB, CFHR genes, and additional thrombotic microangiopathy-related genes. The integration of sequencing results with C3b deposition and sC5b-9 data made the project far more informative than genetic testing alone."

— Nephrology Research Scientist, University Medical Center

"We needed a partner who understood the complexity of the CFH/CFHR region. Creative Biolabs helped us design a workflow that considered sequence variants, copy number changes, and possible structural rearrangements. Their scientists clearly explained the limitations of each method and recommended orthogonal confirmation for complex findings."

— Senior Scientist, Renal Complement Biology Group

Frequently Asked Questions

Can you customize the gene list?

Yes. Creative Biolabs can design a single-gene test, focused disease panel, full complement pathway panel, renal complement panel, angioedema panel, thrombotic microangiopathy panel, expanded immune dysregulation panel, WES, or WGS strategy. We can also include client-specified genes and regions.

Can you analyze CFH and CFHR genes?

Yes. CFH and CFHR genes are commonly included in alternative pathway dysregulation, aHUS, C3 glomerulopathy, and renal complement panels. Because this region is complex, project-specific assay design and confirmatory methods may be recommended.

Can you test SERPING1 for hereditary angioedema?

Yes. Creative Biolabs supports SERPING1 sequencing, deletion/duplication analysis, and known familial variant testing. Expanded angioedema panels can also be designed when C1-INH findings are normal or when broader research questions are being explored.

What sample types do you accept?

Common sample types include EDTA whole blood, genomic DNA, saliva, buccal swabs, cell pellets, cultured cells, and selected tissue-derived DNA. Sample requirements depend on test type, sequencing depth, and whether CNV or structural variant analysis is needed.

What do you deliver at closeout?

You will receive a comprehensive report including methods, sample QC, sequencing metrics, coverage summary, detected variants, interpretation, gene-level relevance, limitations, and optional recommendations for confirmatory or functional studies. Raw data, processed tables, and customized deliverables can be provided upon request.

Can you combine complement genetic test with complement inhibitor screening?

Yes. Genetic results can be paired with complement inhibitor validation, C3b deposition, sC5b-9 quantification, CH50/AH50 testing, C5a measurement, hemolysis inhibition, or cell-based complement activity assays. This is useful for complement therapeutic discovery and translational biomarker development.