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Diagnosis of nemaline myopathy (ACTA1, CFL2, KLHL40, KLHL41, KBTBD13, LMOD3, NEB, TMP2, TMP3, TNNT1 genes)
Despite our efforts to ensure that data is up to date, this activity has not been validated since 01/09/2016- Humangenetik Bochum
- Ruhr-Universität Bochum
- Universitätsstr. 150
- 44801 BOCHUM
- GERMANY
- Director of laboratory : Pr Huu Phuc NGUYEN
- More information
- Phone : 49 (0)234 32 23839
- Additional Phone : -
- Fax : 49 (0)234 32 14196
- Website
Last update: September 2016
Responsible of diagnostic test
Purpose(s)
Post-natal diagnosis
Technical procedure(s)
Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
List of diseases and genes
List of diseases tested
(2)
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.