Orphanet: Diagnostik der neuronalen Ceroidlipofuszinose Typ 1, 2, 3, 4A, 5, 6, 7, 8, 10, 11 Gene: CLN3, CLN5, CLN6, CLN8, CTSD, GRN, MFSD8, PPT1 und TPP1
x

Search for a diagnostic test

* (*) mandatory field

Diagnosis of neuronal ceroid lipofuscinosis type 1, 2, 3, 4A, 5, 6, 7, 8, 10, 11 (CLN3, CLN5, CLN6, CLN8, CTSD, GRN, MFSD8, PPT1 and TPP1 genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 06/03/2013
  • Labor Dr. Fenner und Kollegen - MVZ für Labormedizin und Humangenetik GmbH
  • MVZ Fenner & Krasemann
  • Bergstr. 14
  • 20095 HAMBURG
  • GERMANY
  • Director of laboratory : Dr Ernst KRASEMANN
  • More information
  • Phone : 49 (0)40 30955 0
  • Additional Phone : -
  • Fax : 49 (0)40 30955 13
  • Website
Last update: March 2013

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing

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.