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

Search for a diagnostic test

* (*) mandatory field

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

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

Responsible of diagnostic test

Purpose(s)

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

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.