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Amyotrophic Lateral Sclerosis Advanced Evaluation - Athena #6520
MessageThis test is currently only available in BHS CPRS. If you are a Bedford provider and wish to see this test offered in Bedford CPRS- please contact the Bedford Laboratory.
Test Code
ALS EVAL(ATH#6520)
Includes
Genes Included: ALS2, ANG, C9orf72, CHMP2B, DCTN1, FIG4, FUS, OPTN, PFN1, SETX, SIGMAR1, SOD1, SQSTM1, TARDBP, UBQLN2, VAPB, VCP
Preferred Specimen
Whole blood - Lavender EDTA - 3 tubes
Minimum Volume
Preferred: 8 mL
Minimum: 6 mL
Minimum: 6 mL
Transport Temperature
Room temperature. Avoid freezing.
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Next Generation Sequencing, Repeat Expansion Detection by PCR
Report Available
28 - 42 days
Reference Range
Provided with patient report in CPRS.
Clinical Significance
Type of disorder: Motor Neuron Disorders
Typical Presentation: Gradual onset, progressive muscle failure weakness, fatigue, problems with swallowing, abnormal reflexes, cramping, fasciculations
Disease(s) tested for: Amyotrophic Lateral Sclerosis
Utility: ALS is characterized by progressive degeneration of upper and lower motor neurons leading to muscle stiffness, fasciculations, and atrophy. This test includes sequencing 16 genes including ALS2, ANG, CHMP2B, DCTN1, FIG4, FUS, OPTN, PFN1, SETX, SIGMAR1, SOD1, SQSTM1, TARDBP, UBQLN2, VAPB, VCP and C9orf72 repeat expansion test. This test has a sensitivity of 60-70% of familial ALS cases and 15% of sporadic ALS cases.
Typical Presentation: Gradual onset, progressive muscle failure weakness, fatigue, problems with swallowing, abnormal reflexes, cramping, fasciculations
Disease(s) tested for: Amyotrophic Lateral Sclerosis
Utility: ALS is characterized by progressive degeneration of upper and lower motor neurons leading to muscle stiffness, fasciculations, and atrophy. This test includes sequencing 16 genes including ALS2, ANG, CHMP2B, DCTN1, FIG4, FUS, OPTN, PFN1, SETX, SIGMAR1, SOD1, SQSTM1, TARDBP, UBQLN2, VAPB, VCP and C9orf72 repeat expansion test. This test has a sensitivity of 60-70% of familial ALS cases and 15% of sporadic ALS cases.
Performing Laboratory
Athena Diagnostics, Inc.
200 Forest Street, 2nd Floor
Marlborough, MA 01752
Additional Information
Link to Athena Diagnostics test catalog
Last Updated: December 18, 2015
