Metabolic Myopathy Panel METAMYOPNL

Synonyms
Allscripts (AEHR) Order Name	Metabolic Myopathy Panel
Sunrise Clinical Manager (SCM) Order Name	Metabolic Myopathy Panel
EPIC Order Name	Metabolic Myopathy Panel NGS Panel
Clinical Info	Molecular confirmation of a clinical diagnosisTesting of patients suspected of having a metabolic myopathy GeneDx test code T012
Specimen Type	Blood, Other
Specimen Volume	2-5 mL Whole Blood
Container	Lavender top tube or Buccal (Oral Cheek Swab)
Collection Instructions	Container/Tube: Lavender Top Tube or Buccal Swab Specimen: 2 - 5 mL Whole Blood or Buccal Swab
Transport Instructions	Room Temperature
Specimen Stability
Methodology	Next-Gen SequencingDeletion/Duplication Analysis
Days Performed	TAT 4 Weeks
Performing Laboratory	GeneDx
CPT	81402 x 2 81405 x 3 81406 x 4 81470 81408 81479 x 3
PDM	245718
Result Interpretation See report Genes: ACAD9, ACADM, ACADVL, AGL, ALDOA, CPT2, ETFA, ETFB, ETFDH, FKRP, GAA, GYG1, GYS1, HADHA, HADHB, ISCU, LDHA, LPIN1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PYGM, RYR1, SLC22A5, SLC25A20, SUCLA2, TANGO2, TK2
Forms

Synonyms