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

Despite our efforts to ensure that data is up to date, this activity has not been validated since 16/08/2016
  • Phone : 49 (0)7071 565 44 55
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  • Fax : 49 (0)7071 565 44 22
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Last update: August 2016

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

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.