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Glycogen Storage Myopathy 'B' Profile	#503

Test Details

Type of Disorder:	Neuromuscular Disorders

Typical Presentation:	Adults may present with high CK levels and myopathy, usually without weakness, infants present with severe hypotonia along with high CK levels and fail to thrive

Disease(s) tested for:	Glycogen storage disorder, Phosphofructokinase deficiency (PFK)


Test Code:	503

Informed Consent Required:	No

Medicare ABN Required:	No

Special Notes:	N/A

Technical Information

Utility:	Detects levels of enzyme activity in muscle

Methodology:	Specific enzyme determinations

Reference Value:	Test report lists normal reference values

CPT Code(s):	84311(2)

Patents:	N/A

Shipping Considerations

Preferred Specimen Requirements
Type:	Muscle tissue
Minimum Volume:	100mg
Collection Tube:	Cryovial

Storage Conditions:	Freeze immediately in liquid nitrogen; then store at -70° celsius

Shipping Conditions:	Ship frozen (10 lbs dry ice). Ship using a Muscle Biopsy Shipping Container, provided by Athena.

Test Turnaround:	14-28 days

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