Panel Description

The Hemiplegia/Stroke Panel examines 10 genes associated with hereditary hemiplegia and/or stroke.

Patients with a personal and/or family history suggestive of hereditary hemiplegia and/or stroke. A stroke occurs when a blood vessel carrying oxygen to the brain is either blocked or ruptures, leading to loss of blood supply and oxygen to the brain, thus causing brain damage. Symptoms of stroke can include, but are not limited to, muscle weakness or paralysis, temporary vision loss, balance issues, speech issues, and difficulty swallowing. Symptoms of hemiplegia can include, but are not limited to, numbness, weakness, or paralysis to one side of the body.

Patients identified with hereditary hemiplegia and/or stroke can benefit from increased surveillance and preventative steps to better manage their symptoms and risks. Medical intervention can include prophylactic surgery to remove plaque buildup, lifestyle changes, supportive therapies, and medications including blood thinners, statins, and antihypertensive agents. Also, your patient’s family members can be tested to help define their risk. If a pathogenic variant is identified in your patient, close relatives (children, siblings, parents) could have as high as a 50% risk to also be at increased risk. In some cases, screening should begin in childhood.

Test Description

  • Sequencing
  • Del/Dup
  • Rush / STAT
  • Exclude VUS
  • MCC
  • Duo/Trio
2.9 – 3.857142857142857 weeks
Call for details
ADA2, ATP1A2, ATP1A3, CACNA1A, COL4A1, COL4A2, GLA, NOTCH3, OTC, POLG, SCN1A, SCN5A, SLC2A1 ( 13 genes )
96% at 20x
Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)
All sequencing technologies have limitations. This analysis is performed by Next Generation Sequencing (NGS) and is designed to examine coding regions and splicing junctions. Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences, these may still occasionally interfere with the technical ability of the assay to identify pathogenic variant alleles in both sequencing and deletion/duplication analyses. Sanger sequencing is used to confirm variants with low quality scores and to meet coverage standards. If ordered, deletion/duplication analysis can identify alterations of genomic regions which include one whole gene (buccal swab specimens and whole blood specimens) and are two or more contiguous exons in size (whole blood specimens only); single exon deletions or duplications may occasionally be identified, but are not routinely detected by this test. Identified putative deletions or duplications are confirmed by an orthogonal method (qPCR or MLPA). This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions, repeat expansions (eg. trinucleotides or hexanucleotides), alterations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations.

Gene Notes
CACNA1A The current testing method does not assess trinucleotide repeat expansions in this gene.


– NIH: National Heart, Lung, and Blood Institute: What Is A Stroke?
– Sweney, M.T., Newcomb, T.M., Swoboda, K.J. The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond. Pediatr Neurol 2015;52:56–64 (2015)