Orphanet: Diagnostic d_ichtyose associ�e � une thrombop�nie g�ne KDSR

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Diagnosis of ichthyosis associated with thrombocytopenia (KDSR gene)

  • Phone : 33 (0)4 91 38 60 48
  • Additional Phone : -
  • Fax : 33 (0)4 91 38 91 55
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Last update: February 2019

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Sequence analysis: entire coding region
Sanger sequencing

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (1)
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