Metabolic Myopathy and Rhabdomyolysis NGS panel

Genes
(full
coding
region):
ABHD5, ACAD9, ACADM, ACADVL, AGL, ALDOA, AMPD1, CAV3, CPT2, ENO3, ETFA, ETFB, ETFDH, FLAD1, GAA, GBE1, GYG1, GYS1, HADHA, HADHB, ISCU, LDHA, LPIN1, OPA1, OPA3, PFKM, PGAM2, PGK1, PGM1, PHKA1, PNPLA2, PRKAG2, POLG, POLG2, PYGM, RRM2B, RYR1, SCN4A, SLC22A5, SLC25A20, SLC52A1, SLC52A2, SLC52A3, SUCLA2, TAZ, TK2, TWNK, 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