Orphanet: Diagnostik bei familiärer juveniler Polyposis ENG , BMPR1A und SMAD4 Gen
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Diagnosis of juvenile polyposis syndrome (ENG, BMPR1A and SMAD4 genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 24/11/2011
  • Phone : 49 (0)89 3090 8860
  • Additional Phone : -
  • Fax : 49 (0)89 3090 8866
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Last update: November 2011

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
MLPA based techniques
Deletion / Duplication analysis
NGS sequencing (except WES)

List of diseases and genes

List of genes tested (including panels) (3)

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.