AUTOIMMUNE GENETIC TESTING

Autoimmune Disease Genetic Testing — with 30-50% heritability across most autoimmune conditions, HLA genotype is the single strongest genetic determinant, and shared immune regulatory variants connect seemingly different autoimmune diseases.

Whole genome sequencing evaluates complete HLA haplotypes and all immune regulatory genes — PTPN22, CTLA4, IL2RA, STAT4, IRF5 — providing the comprehensive autoimmune risk profile that single-disease testing cannot.

HLA
PTPN22
CTLA4
IL2RA
STAT4
IRF5

About this condition

Autoimmune Disease — Genetic Testing

Autoimmune diseases collectively affect 5-8% of the population. Most autoimmune conditions have 30-50% heritability, with HLA class I and II genes as the strongest genetic determinants: HLA-B27 for ankylosing spondylitis (OR ~100), HLA-DQ2/DQ8 for celiac disease (required for diagnosis), HLA-DRB1 shared epitope for RA, HLA-DRB1*15:01 for MS, HLA-DR3/DR4 for type 1 diabetes.

Non-HLA shared autoimmune genes include PTPN22 (R620W — lupus, RA, T1D, Hashimoto's), CTLA4 (autoimmune thyroid disease, T1D, celiac), IL2RA (MS, T1D), STAT4 (lupus, RA, scleroderma), and IRF5 (lupus, scleroderma, Sjögren's). These shared genes explain autoimmune polyendocrine syndromes and familial autoimmune clustering across different conditions.

Clinical utility: HLA typing supports autoimmune disease diagnosis (celiac requires DQ2/DQ8), guides treatment (HLA-B*57:01 testing before abacavir to prevent hypersensitivity, HLA-B*58:01 before allopurinol), and identifies at-risk family members for screening. Biologics and targeted therapies are increasingly HLA-informed.

Autoimmune diseases cluster in families — but often as DIFFERENT conditions because they share the same risk genes. Your mother's lupus, your sister's Hashimoto's, and your celiac may all trace to the same HLA and PTPN22 variants.

Gene locus: HLA region (6p21.3), PTPN22 (1p13.2), CTLA4 (2q33.2), IL2RA (10p15.1), STAT4 (2q32.2), IRF5 (7q32.1)

Autoimmune genetics is dominated by HLA. WGS provides the most comprehensive HLA typing available — evaluating all class I and II genes simultaneously, alongside the non-HLA autoimmune risk genes.

HLA typing supports diagnosis, guides drug safety, and identifies at-risk family members — one test for multiple autoimmune applications

HLA genotype supports celiac diagnosis (DQ2/DQ8 required), narcolepsy evaluation (DQB1*06:02), and drug safety (B*57:01 for abacavir, B*58:01 for allopurinol, B*15:02 for carbamazepine). WGS provides complete HLA typing with all these applications from a single test.

Shared autoimmune risk genes explain familial clustering across different conditions — comprehensive testing reveals the family's immune profile

Testing for one autoimmune condition at a time misses the shared genetic architecture. WGS evaluates ALL autoimmune risk genes simultaneously, revealing the full immune genetic profile that explains clustering and identifies risk for multiple conditions in a family.

One test. A lifetime of answers.

One kit, sent to your home. Your entire genome sequenced at the clinical standard used for diagnostic decisions. 200+ physician-ready reports delivered to your Genome Manager in 6–8 weeks — permanent and updated as science advances.

From $449

Ships within 48 hours · Results in 6–8 weeks

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