Congenital Myopathy and Distal Myopathy
NGS panel

Genes: ACTA1, ANO5, BAG3, BIN1, CAV3, CCDC78, CFL2, CNTN1, COL6A1, COL6A3, COL12A1, CRYAB, DES, DNAJB6, DNM2, DYSF, FHL1, FLNC, GNE, KLHL40, KLHL41, LDB3, LMOD3, MATR3, MEGF10, MICU1, MTM1, MTMR14, MYF6, MYH7, MYOT, NEB, RYR1, SELENON, STAC3, SQSTM1, TIA1, TNNT1, TPM2, TPM3, TTN, VCP

List of diseases covered by the panel


Price / TAT: 1338 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis 

Genes: MTM1, MTMR1

Lab method: MLPA

Price / TAT: 590 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form