Mutation Profiles

Mutation Profile
Mutation
Frequency of
Mutant Alleles (%)

Exercise Intolerance (8 mutations)

▪ Carnitine Palmitoyltransferase II deficiency (CPT2 Gene)

▪ Myophosphorylase Deficiency (PYGM Gene)


Myoadenylate Deaminase Deficiency (AMPD1 Gene)

S113L 
Q413fs
P50H
G549D

R50X
G205S

Q45X, P81L

  60
  20
<10
  <5

60-80
  10

  95

Exercise Intolerance + Expanded CPT2 Mutation Analysis Full profile plus R503C & R631C mutations in CPT2 gene  
Carnitine Palmitoyltransferase II Deficiency (CPT2 Gene)

S113L
Q413fs
P50H
G549D
R503C
R631C

  60
  20
<10
  <5
  <5
 <5

Myophosphorylase Deficiency (PYGM Gene)
R50X
G205S
60-80
10
Myoadenylate Deaminase Deficiency (AMPD1 Gene)
Q45X, P81L
95

Prerequisites for any Metabolic Myopathy Mutation Profiles

Clinical: Patient should have evidence of pain, cramps or stiffness with exertion ± myoglobinuria. Non-metabolic causes should be ruled out. A clinical summary must accompany all specimens sent for analysis.

Laboratory: Laboratory-based evidence for a metabolic myopathy should exist which may include but not be limited to elevated serum creatine kinase, an abnormal ischemic exercise test result, and/or an abnormal EMG. A summary of prior laboratory test results, including a histopathology report, must accompany all specimens sent for analysis.

Consent: An informed consent for DNA testing must be signed by the patient and accompany the specimen.

Specimen Requirements for molecular testing: 10 mL whole blood in EDTA, shipped to arrive within 24h of collection by overnight carrier at room temperature; 50 mgs skeletal muscle biopsy snap frozen in liquid nitrogen and stored at -70ºC until shipment on dry ice by overnight carrier.

FYI: Before Contacting the Laboratory