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Diagnosis of SHOX gene-associated diseases (sequencing, MLPA)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 25/09/2014
  • Phone : 49 (0)89 1307 44 0
  • Additional Phone : -
  • Fax : 49 (0)89 1307 44 99
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Last update: September 2014

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Deletion / Duplication analysis
MLPA based techniques

List of diseases and genes

List of genes tested (including panels) (1)

Additional information

Quality management

EQA
 EQA

EQA scheme(s) organized by EMQN

SHOX (Short stature homeobox gene testing)
2014, 2015
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.