Orphanet: Diagn�stico de la enfermedad de almacenamiento de gluc�geno por d�ficit de fosforilasa quinasa genes PHKA1, PHKA2, PHKB, PHKG2

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Diagnosis of glycogen storage disease due to phosphorylase kinase deficiency (PHKA1, PHKA2, PHKB, PHKG2 genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 04/10/2017
  • Seccin de Enfermedades Metablicas
  • INGEMM - Instituto de Gentica Mdica y Molecular (IdiPAZ)
  • Paseo de la Castellana, 261
  • 28046 MADRID
  • Director of laboratory : Dr Sonia RODRGUEZ NOVA
  • More information
  • Phone : 34 912071010
  • Additional Phone : -
  • Fax : -
  • Website
Last update: October 2017

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
NGS sequencing (except WES)

List of diseases and genes

List of genes tested (including panels) (4)
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