Orphanet: Sheffield Diagnostic Genetics Service
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Sheffield Diagnostic Genetics Service

  • Sheffield Children's NHS Foundation Trust
  • Western Bank
  • SHEFFIELD S10 2TH
  • REINO UNIDO (EL)
  • Estado : Public
  • Teléfono : 44 (0) 114 271 7014
  • Otro teléfono : -
  • Fax : -
  • Sitio web
  • Contacto
  • Número EUGT : EUGTGB59822

Contactos

Control de calidad

EQA							
 EQA

EQA organizado por CEQAS

Acute Lymphoblastic Leukaemia
2015, 2016
Amniotic Fluid
2015
Bloods - Postnatal
2015
Breakage syndromes pilot
2016
CVS
2015
Constitutional microarray (postnatal)
2015, 2016
MRA (Molecular Rapid Aneuploidy - QF-PCR/MLPA)
2015, 2016
Mature B and T neoplasms (FISH only)
2015, 2016
Myeloid Leukaemia (AML; MDS; CML)
2015, 2016
Myeloma
2016
Myeloma exploratory pilot and survey
2015
Pilot Products of conception (Array/MLPA/PCR)
2015
Prenatal microarray
2016
Products of conception
2015
Products of conception (Array/MLPA/QF-PCR/NGS)
2016
Products of conception (G-banding)
2016
Rapid aneuploidy FISH
2015, 2016
Tumour
2015, 2016

EQA organizado por GenQA

Blood -postnatal
2019
Myeloid (AML/MDS/CML)
2018

EQA organizado por UKNEQAS

AF (Amniotic Fluid)
2016
ALL (Acute Lymphoblastic Leukemia)
2016
BCR ABL and AML translocation identification
2016
BCR-ABL Quantification
2016
Bloods - Postnatal
2016
C9orf72
2016
CVS
2016
Cystic Fibrosis on blood spots
2016
Cystic fibrosis (CF)
2016
DRPLA
2016
Fragile X syndrome
2016
Huntington disease
2016
JAK2
2016
Lung cancer
2016
Lynch syndrome
2016
MCADD (Medium Chain acyl-CoA Dehydrogenase Deficiency)
2016
MCADD testing in blood spots
2016
Maternal cell contamination and sexing
2016
Melanoma
2016
Microarray
2016
Microsatellite instability molecular testing (genotyping)
2016
Mitochondrial diseases
2016
Myeloid Leukaemia (AML,MDS,CML)
2016
Myotonic dystrophy
2016
Pathogenicity of sequence variants (interpretation) PILOT
2016
Post-SCT chimerism monitoring
2016
Products of conception/fetal tissue analysis
2016
Specific Microbial Antibodies (SMA)
2016
Spinocerebellar ataxias
2016
Toda la información y documentos presentes en este portal tienen como único propósito el de informar. No pretenden de ningún modo sustituir el cuidado y asesoramiento de un médico especialista. Este material, por tanto, no debería usarse como base para el diagnóstico y tratamiento