|
|
| A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
Spinal Muscular Atrophy Diagnostic Test - Athena #111
MessageThis test is for diagnostic purposes only, not for carrier determination.
Test Code
SPINAL MUSC(ATH#111)
Preferred Specimen
Whole blood - Lavender EDTA - 2 tubes
Minimum Volume
Preferred: 4 mL
Minimum: 2 mL
Minimum: 2 mL
Transport Temperature
Room temperature. Avoid freezing.
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
qPCR
Report Available
7 days
Reference Range
Provided with patient report in CPRS
Clinical Significance
Type of disorder: Motor Neuron Disorders
Typical presentation: Spinal muscular atrophy is characterized by progressive muscle weakness caused by the degeneration of lower motor neurons that are responsible for controlling voluntary muscle movement including walking, crawling, swallowing, and head and neck control. Age of onset ranges from before birth to adolescence or young adulthood. The most common type of SMA is associated with respiratory failure and death before the age of two.
Disease(s) tested for: Lower Motor Neuron Disease, Spinal muscular atrophy (SMA)
Utility: Detects copy number (dosage) of the SMN1 and SMN2 genes
Typical presentation: Spinal muscular atrophy is characterized by progressive muscle weakness caused by the degeneration of lower motor neurons that are responsible for controlling voluntary muscle movement including walking, crawling, swallowing, and head and neck control. Age of onset ranges from before birth to adolescence or young adulthood. The most common type of SMA is associated with respiratory failure and death before the age of two.
Disease(s) tested for: Lower Motor Neuron Disease, Spinal muscular atrophy (SMA)
Utility: Detects copy number (dosage) of the SMN1 and SMN2 genes
Performing Laboratory
Athena Diagnostics, Inc.
200 Forest Street, 2nd Floor
Marlborough, MA 01752
Additional Information
Link to Athena Diagnostics test catalog
Last Updated: November 27, 2017
