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CLCN1 DNA Sequencing Test - Athena #128
MessageTest cost $1000
This 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.
This 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
CLCN1 DNA(ATH#128)
Alias/See Also
Chloride Channel 1 Skeletal Muscle
Myotonia Congenita
Myotonia Congenita
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
Report Available
28 - 42 days
Reference Range
Provided with the patient report in CPRS.
Clinical Significance
Type of disorder: Neuromuscular Disorders
Typical presentation: Autosomal recessive myotonia congenita is a nondystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles.
Indications for testing: Proximal and/or distal stiffness or weakness. Non-dystrophic, non-syndromic myotonia with mild hypertrophy.
Disease(s) tested for: Myotonia Congenita
Utility: Detects point mutations in the CLCN1 gene
Typical presentation: Autosomal recessive myotonia congenita is a nondystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles.
Indications for testing: Proximal and/or distal stiffness or weakness. Non-dystrophic, non-syndromic myotonia with mild hypertrophy.
Disease(s) tested for: Myotonia Congenita
Utility: Detects point mutations in the CLCN1 gene
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
