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Summary – Program PT Specific-Disease

Scheme design:

DNA samples were sent out to the participating laboratories according to the diseases and mutations reported to be tested by them. In most cases, two samples were provided for each gene/disease for diagnosis, by the method routinely employed by each participating laboratory.

Reporting requirements:

  • A filled-in result form provided by QualiGene
  • A final report provided to the referring clinician

Performance Criteria:

  • Genotype identification
  • The report provided to the referring clinician
  • Nomenclature

Consultants:

  • Dr. Ruth Shomrat
  • Mrs. Sigal Tsabari

 

Tested diseases

Disease Gene Mutations
Mucolipidosis Type IV (ML4) MCOLN1 c.-1015_789del
c.1207C>T
Spinal Muscular Atrophy (SMA) SMN1 Exons 7-8 del
 

Tay-Sachs Disease

  

HEXA

 c.509G>A
c.1274_1277dup
c.571-2A>G
Joubert Syndrome Type II TMEM216 c.218G>T
Bloom Syndrome BLM c.2207_2212delinsTAGATTC
Walker Warburg Syndrome FKTN c.1167dup
Infantile Cerebral Cerebellar Atrophy -ICCA MED17 c.1112T>C
Familial Mediterranean Fever (FMF) MEFV c.1105C>T
Achondroplasia FGFR3 c.1138G>A
Deafness, Autosomal Recessive 7 TMC1 c.1939T>C
c.1810C>T
c.1210T>C
Progressive Cerebello-Cerebral Atrophy Pontocerebellar Hypoplasia type 2E (PCCA2) VPS53 c.1556+5G>A
c.2084A>G
Breast and Ovarian Cancer BRCA2 c.7007G>C
Colon cancer MUTYH c.1187G>A
Cockayne type B ERCC6 c.1034_1035insT
 

Albinism

  

OCA2

 c.79G>A
c.1441G>A
c.79G>A
c. 1320G>C
c. 2373_2375del
Albinism TYR c.1A>G
c.1118C>A
MELAS-Mitochondrial disease MT-TL1 m.3243A>G

Score summary

Number of samples sent …………………….258
Number of diseases tested ………………….24
Genotyping errors………………………………4
Samples mix-ups……………………………………..0
Errors in nomenclature…………………………….3
Deficiencies in the final results report……..2

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