Familial Hemiplegic Migraine (NGS Panel and Copy Number Analysis + mtDNA)

Room Temp whole blood, oral swab, extracted DNA (from blood, oral swab, or muscle only) OR frozen muscle tissue

Whole blood: 4 ml
Oral swab: 3 swabs
Muscle:  75 milligrams
Extracted DNA: Contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

Whole blood: 2 ml
Oral swab: 1 swab
Muscle:  50 milligrams
Extracted DNA: Contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

Whole blood: Lavender-top (EDTA) 
Oral swab: OCD-100 DNA Genotek
Muscle:  Sterile screw capped vial
Extracted DNA: Contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

Whole blood: standard phlebotomy
Oral swab: follow kit instructions
Muscle:  Snap freeze in liquid nitrogen and maintain at -80°C
Extracted DNA: Contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

Maintain whole blood and oral swab specimens at room temperature or refrigerate at 4°C. Do not freeze.  Muscle specimen: maintain frozen and ship on dry ice.

• Room temperature: Whole blood: 14 days; Swab: 60 days; Muscle:  0 days
• Refrigerated: Whole blood: 30 days; Swab: 60 days; Muscle: 0 days
• Frozen: Muscle: 15 years

Hemolyzed, quantity not sufficient for analysis, improper container, improper storage temperature

Familial hemiplegic migraine (FHM) falls within the category of migraine with aura. In migraine with aura the neurologic symptoms are unequivocally localizable to the cerebral cortex or brain stem and include visual disturbance (most common), sensory loss (e.g., numbness or paresthesia’s of the face or an extremity), and dysphasia (difficulty with speech). FHM is often earlier in age of onset than typical migraines, frequently beginning in the first or second decade, and the frequency of attacks tends to decrease with age. Approximately 40%-50% of families with FHM1 have cerebellar signs ranging from nystagmus, to progressive and usually late-onset mild ataxia.

This assay will not consistently detect mosaicism or rule out the presence of large chromosomal aberrations, including rearrangements and inversions that do not change copy number of genomic regions. This NGS assay does not detect repeat expansions. False positive or false negative results may occur for reasons that include insufficient information available about rare genetic variants, sex chromosome abnormalities, pseudogene interference, homologous regions, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism/heteroplasmy, mislabeled samples, or erroneous representation of family relationships. For panels with mitochondrial DNA assessment, low levels of heteroplasmy may not be reliably detected. Interpretation of the clinical significance of gene variations is limited by information about the variant that is available at the time of reporting, and by the quality and quantity of clinical information provided with the sample. The interpretation of the clinical significance of variants may change.

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

Next generation sequencing to identify single nucleotide variants (SNVs), insertions, deletions, and copy number variants (CNVs).  For the mitochondrial genome, next generation sequencing of long range PCR products. 

SINGLE Blood Genetic Testing, Buccal Swab Genetic Testing