Lab Updates

Lab Update 31 – An Update on Connective Tissue Disease Diagnosis

Lab Updates
Lab Update 31 – An Update on Connective Tissue Disease Diagnosis
Read Document

May 2022
Ampath | ampath.co.za

Updated Terminology and Diagnostic Structure

Connective Tissue Disease (CTD)

  • Formerly referred to as the ENA (Extractable Nuclear Antigen) screen
  • The CTD screen now includes the following autoantibodies:
    • RNP
    • Sm
    • SSA (Ro)
    • SSB (La)
    • Scl-70 (Topoisomerase I)
    • Jo-1
    • Centromere-B
    • PM-Scl
    • Mi-2
    • Fibrillarin
    • PCNA
    • Ribosomal P-protein
    • dsDNA
    • RNA Polymerase III (Pol III)
    • Ro-52

CTD Profile Options

CTD Profile 1 (7 markers, only 6 billed):

  • RNP
  • Sm
  • SSA (Ro)
  • SSB (La)
  • Scl-70 (Topoisomerase I)
  • Jo-1
  • Centromere-B

CTD Profile 2 (5 markers, all billed):

  • PM-Scl
  • Mi-2
  • Fibrillarin
  • PCNA
  • Ribosomal P-protein

Note:

  • dsDNA, RNA Pol III, and Ro-52 are included in the CTD screen, but not in Profiles 1 or 2
  • dsDNA must be requested separately if indicated
  • RNA Pol III is assessed on the Systemic Sclerosis Profile
  • Ro-52 is included in all autoimmune profiles listed below

Other Key Antibody Testing Notes

Double-Stranded DNA (dsDNA)

  • Included in the CTD screen, not in the CTD profiles
  • A second SLE-specific dsDNA ELISA (dsDNA complexed with nucleosome) is available and must be specifically requested

Cytoplasmic Antibodies

  • If cytoplasmic antibodies are identified during ANA screening:
    • A cytoplasmic autoimmune profile is available for follow-up

Updated Autoimmune Profiles (Previously Called "Western Blot" Panels)

Cytoplasmic Profile

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

Myositis Profile

  • Mi-2α
  • Mi-2β
  • 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)
  • Centromere A
  • Centromere B
  • RNA Pol III (RP11 & 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
  • LKM1
  • LC1
  • SLA/LP
  • Ro-52

ENA Profile

More comprehensive than CTD Profiles 1 and 2. Includes 16 autoantigens:

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

Streptavidin in Immunoassays

  • Ampath's primary autoantibody test platforms use streptavidin-biotin systems to enhance antibody detection.
  • Some patients have streptavidin antibodies, which can cause false positives.
  • No commercial test exists to detect streptavidin antibodies.
  • Solution: Request an ENA profile (line immunoassay), which is streptavidin-free.
  • All autoimmune profiles listed above are streptavidin-free.

Implementation

  • These changes were implemented from 23 May 2022
  • During the transition, result commentary will guide clinicians
  • Updated autoimmune request forms are available
  • Customisable electronic request forms can be ordered through your area marketer

Conclusion

Ampath’s goals with these updates:

  • Simplify CTD diagnostic workflows
  • Contain patient costs
  • Offer additional testing only when indicated
  • Enable request of individual antigens when needed
  • Support access to international send-away testing for rare autoantibodies
  • Stay aligned with current best practices in autoimmunity diagnostics

📌 For support, profile selection, or advanced testing enquiries, contact your local Ampath pathologist.