|
|
| 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 # |
Distal Hereditary Motor Neuropathy NextGen Sequencing Panel
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
DHMN NGS PANEL(O)
Includes
ATP7A, BSCL2, DCTN1, DNMT1, FIG4, GAN, GARS, HINT1, HSPB1, HSPB8, IGHMBP2, LAS1L, MEGF10, REEP1, SETX, SLC5A7, TRPV4
Preferred Specimen
2 tubes Whole Blood Lavender EDTA
Transport Temperature
Room temperature
Specimen Stability
48 hours
Methodology
NextGen Sequencing
Deletion/duplication testing via array comparative genomic hybridization
Report Available
45 days, but usually completed within 3-4 weeks.
Reference Range
Provided with patient report in CPRS.
Clinical Significance
Distal hereditary motor neuropathy (dHMN) is a clinically and genetically heterogeneous group of disorders characterized by progressive distal motor weakness and atrophy. The distribution of weakness is usually greater in the distal lower limbs than the upper limbs, and weakness of the toe extensor muscles is often the presenting sign. Nerve conduction velocites are generally normal in dHMN and sensory impairment is not a feature of this disorder. Subtypes of dHMN can be differentiated to some extent based on age of onset, pattern of weakness, rate of progression, and appearance of additional complicating features. For discussions on classification, pathophysiology, and molecular genetics of dHMN see Irobi et al. (2004) and Drew et al. (2011).
Performing Laboratory
Test performed at Prevention Genetics
Additional Information
Link to test information on Prevention Genetics website
Last Updated: October 29, 2015
