Metabolic Myopathy Panel NGS Panel

Synonyms

  • LAB4185
  • METABOLIC MYOPATHY PANEL
  • METAMYOPNL

Cerner Name

Metabolic Myopathy Panel

Clinical Info

Molecular confirmation of a clinical diagnosisTesting of patients suspected of having a metabolic myopathy
GeneDx test code T012

Specimen Sources

Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous

Specimen Types

Blood

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 Laboratories

GeneDx

CPT

81402 x 2
81405 x 3
81406 x 4
81470
81408
81479 x 3

PDM

245718

Results
Component Name Base Name Common Name External Name
METABOLIC MYOPATHY PANEL METAMYO METABOLIC MYOPATHY PANEL Metabolic Myopathy Panel

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
Molecular-Send Outs LAB4185 build edit