Diagnostic Resources: USA

Dysferlin Protein Analysis

Detection of dysferlin in blood cells by western blot:

• Madhuri Hegde, PhD - Emory University - NOW AVAILABLE!!!

The Jain Foundation is sponsoring a blood-based dysferlin protein expression research study to aid in the diagnosis of dysferlinopathy pateints.  Patients determined to have dysferlin protein levels in the disease range will be eligible for Jain Foundation sponsorship of dysferlin genetic analysis to identify their dysferlin mutations. 

Patients must register with the Jain Foundation in order to determine whether they qualify for this study.  Please contact the Jain Foundation for details

• Athena Diagnostics
  Test Code #561: Dysferlin Blood Test (call for pricing)

Immunofluorescence of dysferlin on muscle biopsy sections:

• University of Iowa Diagnostic Laboratories (UIDL)
  Limb-Girdle Muscular Dystrophy Biopsy Testing (call for pricing)

Dysferlin Mutational Analysis

• Emory Genetics Laboratory
  The Jain Foundation offers sponsorship of dysferlin mutational analysis (codes SDYSF and DDYSF only) using this laboratory for US cases where this diagnostic step is warranted and isn't covered by insurance. Patients must register with the Jain Foundation in order to determine whether they qualify.  Please contact the Jain Foundation for details.

  Test Code SDYSF: Dysferlin (DYSF) Full Gene Sequencing ($2313)

  Test Code DDYSF: Dysferlin (DYSF) Gene Deletion/Duplication ($1500)

  Test Code SLGMD: Limb-Girdle Muscular Dystrophy Full Gene Sequencing Panel ($5800)
  Multiple gene sequencing (including dysferlin): Detects mutations in the CAPN3, CAV3, DYSF, LMNA, SGCA, SGCB, SGCD, SGCG, TCAP, TRIM32, TTID/MYOT genes

  Test Code DLGMD: Limb-Girdle Muscular Dystrophy Gene Deletion/Duplication Panel ($2200)
  Multiple deletion/duplication testing (including dysferlin): Detects deletions/duplications in the CAPN3, CAV3, DYSF, LMNA, SGCA, SGCB, SGCD, SGCG, TCAP, TRIM32, TTID/MYOT genes
   

• Athena Diagnostics
  Test Code #571: Dysferlin DNA Sequencing Test (call for pricing)
  Test Code #603: Limb Girdle Muscular Dystrophy Evaluation (call for pricing)
  Multiple gene sequencing (including dysferlin): Detects mutations in the CAPN3, CAV3, DYSF, FKRP, MYOT, SGCA, SGCB, SGCD, SGCG genes
   
• Utah Genome Depot, University of Utah
  Mutation Analysis of the Dysferlin (DYSF) gene ($1250)
   
• Nationwide Children's Hospital, Columbus, Ohio
  Test Code MOL45: Dysferlin Mutation Analysis (type dysferlin in search window)(call for pricing)
  Test Code MOL46: LGMD Familial Mutation Analysis (type dysferlin in search window)(call for pricing)
  Multiple gene sequencing (including dysferlin): Detects mutations in the CAPN3, DYSF, FKRP, LMNA, SGCA, SGCB, SGCD, SGCG genes
   
• Prevention Genetics, Marshfield, Wisconsin
  Test #342: Dysferlin (DYSF) Gene Sequencing Test ($2490)