Invitae Hereditary Hyperekplexia Panel
Use
The Invitae Hereditary Hyperekplexia Panel analyzes genes associated with hyperekplexia (HKPX), a disorder characterized by generalized stiffness after birth that typically normalizes within the first few years of life, along with an excessive startle reflex followed by generalized stiffness. This panel may be appropriate for individuals with signs and symptoms of HKPX. Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of disease-causing variants provides accurate risk assessment and carrier status of at-risk relatives.
Special Instructions
Preferred specimen: 3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA). Alternate specimens: Saliva, buccal swab, and gDNA are also accepted.
Limitations
Certain types of variants, such as structural rearrangements or variants embedded in sequence with complex architecture, may not be detected. It may not be possible to fully resolve certain details about variants such as mosaicism, phasing, or mapping ambiguity. Sequence changes in promoter, non-coding exons, and other non-coding regions are not covered, unless explicitly guaranteed. In rare cases, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)