Accredited laboratories for genetic diagnosis

Accredited laboratories for genetic diagnosis
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  • Clemens Müller-Reible
    Clemens Müller-Reible
    Clemens Müller-Reible is Professor of Human Genetics at the University of Wuerzburg. He trained as a...

In order to provide information on European laboratories performing tests for genetic diseases, including neuromuscular conditions, Orphanet have set up a database of accredited laboratories. Clinical laboratories listed in Orphanet are those offering tests for the diagnosis of a rare disease or a group of rare diseases and those performing genetic testing whatever the prevalence of the disease. EuroGentest participates in the validation of data on accreditation and on EQA (External Quality Assessment) participation.

Click here to search the Orphanet database

The search terms below should help you find the information you need.

Duchenne muscular dystrophy

  • Dystrophin (muscular dystrophy, Duchenne and Becker types) - DMD

Spinal muscular atrophy

  • NLR family, apoptosis inhibitory protein - NAIP
  • Survival of motor neuron 1, telomeric - SMN1
  • Survival of motor neuron 2, centromeric - SMN2

Limb-girdle muscular dystrophy

  • Anoctamin 5 - ANO5
  • Calpain 3, (p94) - CAPN3
  • Caveolin 3 - CAV3
  • Dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) - DYSF
  • Fukutin related protein - FKRP
  • Fukutin - FKTN
  • Lamin A/C - LMNA
  • Myotilin - MYOT
  • Plectin - PLEC
  • Protein-O-mannosyltransferase 1 - POMT1
  • Protein-O-mannosyltransferase 2 - POMT2
  • Sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) - SGCA
  • Sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) - SGCB
  • Sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) - SGCD
  • Sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) - SGCG
  • Titin-cap (telethonin) - TCAP
  • Tripartite motif-containing 32 - TRIM32
  • Titin - TTN

Congenital muscular dystrophy

  • Collagen, type VI, alpha 1 - COL6A1
  • Collagen, type VI, alpha 2 - COL6A2
  • Collagen, type VI, alpha 3 - COL6A3
  • Dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) - DYSF
  • Fukutin related protein - FKRP
  • Fukutin - FKTN
  • Integrin, alpha 7 - ITGA7
  • Laminin, alpha 2 (merosin, congenital muscular dystrophy) - LAMA2
  • Like-glycosyltransferase - LARGE
  • Lamin A/C - LMNA
  • Protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase - POMGNT1
  • Protein-O-mannosyltransferase 1 - POMT1
  • Protein-O-mannosyltransferase 2 - POMT2

Selenoprotein N, 1 - SEPN1

 
12 Apr 2017