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Diagnosis of autosomal recessive limb-girdle muscular dystrophy type 2

Despite our efforts to ensure that data is up to date, this activity has not been validated since 30/09/2016
  • LabGenetics
  • LabGenetics - Laboratorio de Gentica Clnica, S.L.
  • Calle Poeta Rafael Morales, 2, 2 planta
  • 28702 SAN SEBASTIN DE LOS REYES
  • SPAIN
  • Director of laboratory : Dr Jorge PUENTE PRIETO
  • More information
  • Phone : 34 916 59 22 98
  • Additional Phone : -
  • Fax : 34 916 59 22 99
  • Website
  • Contact
Last update: September 2016

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis
Pre-symptomatic diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Sequence analysis: entire coding region
Sanger sequencing
Deletion / Duplication analysis
MLPA based techniques
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.