Lab Updates

Lab Update 31.3 – Update: Autoimmune Diagnostic Workup

Lab Updates
Lab Update 31.3 – Update: Autoimmune Diagnostic Workup
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November 2022
Ampath | ampath.co.za

Updated Terminology

✅ ENA/CTD Screen and Profile

  • The former CTD Profiles 1 and 2 have been consolidated into a single ENA/CTD profile using line immunoassay technology.
  • The ENA/CTD screen includes the following antibodies (reported as positive/negative):
    • RNP
    • Sm
    • SSA (Ro-60)
    • SSB (La)
    • Scl-70 (Topoisomerase I)
    • Jo-1
    • Centromere-B
    • PM-Scl
    • Mi-2
    • Fibrillarin
    • PCNA
    • Ribosomal P-protein
    • dsDNA
    • RNA Polymerase III
    • Ro-52

If the ENA/CTD screen is positive, the ENA/CTD profile should be requested to identify specific autoantibodies.

✅ ENA/CTD Profile – 16 Autoantibodies Reported Qualitatively:

  • Sm/RNP
  • Sm
  • SSA (Ro-60)
  • Ro-52
  • SSB (La)
  • Scl-70 (Topoisomerase I)
  • PM-Scl
  • Jo-1
  • Centromere B
  • PCNA
  • Nucleosome
  • Histone
  • Ribosomal P-protein
  • AMA-M2
  • DFS-70

This profile is cost-effective and streptavidin-biotin-free, avoiding false positives from streptavidin antibodies.

Follow-Up Testing Suggestions

  • If the ENA/CTD screen is positive but the profile is negative, consider a:
    • Myositis line immunoassay, or
    • Systemic sclerosis line immunoassay
    • Based on clinical findings
  • Individual antigens can also be requested if clinically appropriate.

✅ dsDNA Testing

  • A dsDNA ELISA, complexed with nucleosome (to reduce non-specific binding), is available.
  • Must be specifically requested for quantitative monitoring.

✅ Cytoplasmic Antibodies

  • If observed on ANA screen, a cytoplasmic autoimmune profile is available on request.

Updated Autoimmune Profiles (Line Immunoassays)

🔹 Cytoplasmic Profile

  • AMA-M2
  • 3E (BPO)
  • Ribosomal P
  • Jo-1
  • SRP
  • PL-7
  • PL-12
  • EJ
  • OJ
  • Ro-52

🔹 Myositis Profile

  • Mi-2α (alpha)
  • Mi-2β (beta)
  • TIF1γ
  • MDA5
  • NXP2
  • SAE1
  • Ku
  • PM-Scl 100
  • PM-Scl 75
  • Jo-1
  • SRP
  • PL-7
  • PL-12
  • EJ
  • OJ
  • Ro-52

🔹 Systemic Sclerosis Profile

  • Scl-70 (Topoisomerase I)
  • Centromere A
  • Centromere B
  • RNA Pol III (RP11 and RP155)
  • Fibrillarin
  • NOR-90
  • Th/To
  • PM-Scl 100
  • PM-Scl 75
  • Ku
  • PDGFR
  • Ro-52

🔹 Autoimmune Liver Profile

  • AMA-M2
  • 3E (BPO)
  • Sp100
  • PML
  • gp210
  • LKM-1
  • LC-1
  • SLA/LP
  • Ro-52

🔹 ENA Profile (Expanded)

  • Sm/RNP
  • Sm
  • SSA (Ro-60)
  • Ro-52
  • SSB (La)
  • Scl-70
  • PM-Scl
  • Jo-1
  • Centromere B
  • PCNA
  • Nucleosome
  • Histone
  • Ribosomal P-protein
  • AMA-M2
  • DFS-70

🔹 Neuronal Autoimmune Profile

  • IFA: Yo, Hu, Ri
  • Line Immunoassay: Amphiphysin, CV2, PNMA2 (Ma-2/Ta), Ri, Yo, Hu, Recoverin, SOX1, Titin, Zic4, GAD65, Tr (DNER)

🔹 NMDA Autoimmune Encephalitis Profile

  • NMDA
  • AMPA 1
  • AMPA 2
  • GABA-B receptor
  • CASPR2
  • LGI-1

🔹 Ganglioside Antibody Profile

  • GM1 IgM
  • GM1 IgG
  • GM2 IgM
  • GM2 IgG
  • GD1a IgM
  • GD1a IgG
  • GM3 IgM
  • GM3 IgG
  • GD1b IgM
  • GD1b IgG
  • GT1b IgM
  • GT1b IgG
  • GQ1b IgM
  • GQ1b IgG

🔹 Other Organ-Specific Profiles

  • Available as listed on Ampath’s updated autoimmune request form

Recommended Autoimmune Workup

If connective tissue disease (CTD) is suspected:

  • Request ANA + ENA/CTD screen
  • If ENA/CTD screen is positive → follow with ENA/CTD profile

Why include ENA/CTD screen even if ANA is negative?

  • Some antibodies (e.g. Ro-52, SSA (Ro-60), ribosomal P-protein, myositis markers) may be missed by ANA immunofluorescence
  • Combining ANA with ENA/CTD screen improves early detection and accurate diagnosis of autoimmune diseases

Conclusion

Ampath is committed to:

  • Simplifying autoimmune diagnostics
  • Expanding profile options
  • Containing patient costs
  • Offering international send-away testing for rare/new antibodies
  • Providing customisable and electronic request forms

The combination of ANA and ENA/CTD screen increases diagnostic sensitivity for CTD and supports better patient care.

📌 Contact your local Ampath pathologist or marketer for guidance, forms, or additional testing support.