Neurology
Congenital Myopathy Panel
Overview
Test Name
Congenital Myopathy Panel
Test Code
NUE1012
Test Category
Gene Panels
Test Subcategory
Neurology
Disease(s) Targeted
Congenital myopathy
Who Is The Test For?
Patients with a family history, clinical suspicion, or diagnosis of congenital myopathy.
Test Approach
Whole exome sequencing (WES) with in silico gene panel analysis.
No. of Genes
74
Panel Content
ACTA1, ACTN2, ADSS1, ASCC1, ASCC3, BIN1, CACNA1S, CFL2, COL12A1, COL13A1, COL25A1, COL6A1, COL6A2, COL6A3, COX6A2, DNAJB4, DNM2, DOK7, ECEL1, EPG5, FKBP14, FXR1, GBE1, GFER, HACD1, HNRNPA2B1, KBTBD13, KLHL40, KLHL41, KY, LETM1, LMNA, LMOD3, MAP3K20, MEGF10, MICU1, MLIP, MTM1, MYBPC1, MYH2, MYH3, MYH7, MYL1, MYL2, MYMK, MYO18B, MYOD1, MYPN, NEB, ORAI1, PAX7, PIEZO2, PYROXD1, RYR1, RYR3, SCN4A, SELENON, SLC25A4, SPEG, SPTBN4, STAC3, STIM1, TNNC2, TNNI2, TNNT1, TNNT3, TPM2, TPM3, TRDN, TRIP4, TTN, UNC45B, VMA21, ZC4H2
Deliverables
Clinical Report (Download a sample report here)
Turnaround Time
~3-6 weeks*
Specimen Requirements
For detailed information about the sample requirements, please consult our clinical sample requirements page.
About Congenital myopathy
Congenital myopathy is a group of inherited muscle disorders causing weakness and low muscle tone from birth.
Gene Panel Workflow
Order a test using our clinical portal
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