Orphanet: Diagnostik PAX6 Gen assoziierter Krankheiten PAX6 Gen
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Diagnosis of PAX6 gene-associated diseases (PAX6 gene)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 14/07/2015
  • Phone : 49 (0)89 1307 44 0
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  • Fax : 49 (0)89 1307 44 99
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Last update: July 2015

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
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.