Nemaline Myopathy via the NEB Exon 55 Deletion
Use
This test is for individuals with a strong clinical suspicion of Nemaline Myopathy associated with the NEB gene, particularly where previous genetic testing was negative or indicated a single variant related to autosomal recessive disease. It is also suitable for family members of patients with positive findings for specific deletions, duplications, or inversions.
Special Instructions
This test is performed by targeting a specific deletion in the NEB exon 55. STAT testing is available within 8-10 days, with a surcharge, provided the blood sample is submitted timely.
Limitations
The test is limited to the detection of the specific exon 55 deletion in the NEB gene. Other variants, deletions, or duplications not covered by this assay will not be identified. Genetic counseling is recommended for comprehensive interpretation and counseling.
New York Approved
Methodology
PCR-based (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided