Metabolic Myopathy and Rhabdomyolysis NGS panel

Genes
(full
coding
region):		 ABHD5, ACAD9, ACADM, ACADVL, AGL, ALDOA, AMPD1, ANO5, CAV3, CPT2, DGUOK, DMD, DYSF, EPM2A, ENO3, ETFA, ETFB, ETFDH, FDX1L (FDX2), FLAD1, FKRP, GAA, GBA1 (GBA), GBE1, GYG1, GYS1, HADHA, HADHB, ISCU, LDHA, LPIN1, NHLRC1 (EPM2A), OPA1, OPA3, PHKA1, PHKB, PFKM, PGAM2, PGK1, PGM1, PNPLA2, POLG, POLG2, PRKAG2, PYGM, RBCK1, RRM2B, RYR1, SCN4A, SIL1, SLC22A5, SLC25A20, SLC52A1, SLC52A2, SLC52A3, SUCLA2, TAZ, TK2, TSEN54, TWNK, TANGO2, TYMP

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 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