Metabolic Myopathy Mutation Profiles

Related forms in printer-friendly format:
Request for Laboratory Analysis - Metabolic Myopathy Mutation Profiles

Informed Consent for DNA Testing

HIPPA Form

Mutation Profile	Mutation	Frequency of Mutant Alleles (%)
Carnitine Palmitoyltransferase II Deficiency	S113L   413delAG   P50H  R503C G549D  R631C	60           20         <10           <5           <5 <5
Myophosphorylase Deficiency	R49X   G204S	60-80           10
Myoadenylate Deaminase Deficiency	Q12X   P48L	95           95
Exercise Intolerance  CPT II Myophosphorylase Myoadenylate Deaminase	S113L    413delAG P50H    R49X   G204S   Q12X   P48L	60           20 <10 60-80           10           95           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 an abnormal EMG. A summary of prior laboratory test results must accompany all specimens sent for analysis.

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

Specimen Requirement: 5 mL whole blood in EDTA, shipped to arrive within 24h of collection by overnight carrier at room temperature; 100 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