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Diagnosis of multiminicore and congenital fiber-type disproportion myopathies (ACTA1, MYH7, RYR1, SELENON, TPM2, TPM3 genes)

  • LabGenetics
  • LabGenetics - Laboratorio de Genética Clínica, S.L.
  • Calle Poeta Rafael Morales, 2, 2ª planta
  • 28702 SAN SEBASTIÁN 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: November 2018

Responsible of diagnostic test

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

List of diseases and genes

List of diseases tested (4)
Classic multiminicore myopathy
Congenital fiber-type disproportion myopathy
Congenital multicore myopathy with external ophthalmoplegia
Moderate multiminicore disease with hand involvement
List of genes tested (including panels) (6)
ACTA1
MYH7
RYR1
SELENON
TPM2
TPM3
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.