Orphanet: Diagnostik der neuronalen Ceroidlipofuszinose NGS Screening Panel, 13 Gene

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Diagnosis of neuronal ceroid lipofuscinosis (NGS Screening Panel, 13 genes)

  • Phone : 49 (0)381 2036520
  • Additional Phone : -
  • Fax : 49 (0)381 20365219
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Last update: February 2018

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
MLPA based techniques

Additional information

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