|
|
| 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 # |
CNBP DNA Test (DM2) - Athena #110
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
DM2 DNA(ATH#110)
Alias/See Also
Myotonic Dystrophy
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
Repeat Expansion Detection by PCR
Report Available
28 - 42 days
Reference Range
Provided with the patient report in CPRS.
Clinical Significance
Type of disorder: Neuromuscular Disorders
Typical presentation: Individuals with a range of symptoms from cataracts to significant muscle wasting, cardiac complications, ptosis and myotonia
Disease(s) tested for: Myotonic Dystrophy, Type 2
Utility: Detects CCTG repeat expansions in the Zinc Finger Protein 9 (ZNF9) gene
Typical presentation: Individuals with a range of symptoms from cataracts to significant muscle wasting, cardiac complications, ptosis and myotonia
Disease(s) tested for: Myotonic Dystrophy, Type 2
Utility: Detects CCTG repeat expansions in the Zinc Finger Protein 9 (ZNF9) 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
