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Proficiency Testing Program Summary Report
Expanded Carrier Screening Program

Program Design:
Participants received up to four DNA samples for testing. Each sample was analyzed for all variants and diseases included in each laboratory’s screening panel.

Reporting Requirements:

  • A filled-in results form (provided by QualiGene)
  • Clinical report

Performance Criteria:

  • Genotype identification
  • Clinical report
  • Nomenclature accuracy (HGVS, HGNC)

Consultants:

  • Dr. Ruth Shomrat
  • Ms. Sigal Tsabari

Participation:
Sixteen laboratories participated in this program.

Tested diseases

 

Disease Gene Variant
Achromatopsia 2 CNGA3 c.1669G>A
Deafness, Autosomal Recessive 1B GJB6 309kb del
Deafness, Autosomal Recessive 3 MYO15A c.9861C>T
Pendred Syndrome SLC26A4 c.349C>T
Wilson Disease ATP7B c.3191A>C
Usher Syndrome, Type IC USH1C c.238dup
Familial Dysautonomia ELP1 (IKBKAP) c.2087G>C
Hypomyelinating Leukodystrophy 12 VPS11 c.2536T>G
Intellectual Developmental Disorder, Autosomal Recessive 34 CRADD c.52_59del
Usher Syndrome, Type IG USH1G c.1373A>T
Nonaka Myopathy GNE c.2135T>C
Fanconi Anemia, Complementation Group A FANCA c.2172dup

Score summary

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