• Test Code:
    1135
  • Department:
    Molecular Genetics
  • Test Synonyms:
    CADASILCARASILFamilial hemiplegic migraineATP1A2CACNA1A COL4A1HTRA1NOTCH3POLGSCN1ASLC2A1
  • CPT Code(s):
    81405x281406x281407x28140881479****************************************New codes as of 01/.01/.2019*****************8118581405x281406x2814078140881479
Background:

Strokes and migraines may have very similar sets of symptoms that include severe headache, vision loss, auras and weakness. This panel assesses the variants in genes associated with specific conditions where migraines and strokes are primary symptoms. These conditions include familial hemiplegic migraine, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) and others. These disorders can either be autosomal dominant or autosomal recessive.

Reasons for Referral:

  • Confirm a clinical diagnosis with a genetic etiology for migraines and or strokes
  • Carrier testing
  • Positive family history

Methodology:

Next generation sequencing will analyze the exons or coding regions of 8 Migraine and Stroke-associated genes using Illumina NextSeq 500 technology.  Samples are prepared using hybridization probes to enrich exonic regions.  Promoter, intronic, etc. regions are not assessed on our assay, but may contain variants that impact gene function.

The 8 Migraine and Stroke-associated genes are listed below:
ATP1A2, CACNA1A, COL4A1, HTRA1, NOTCH3, POLG, SCN1A, SLC2A1 

Specimen Requirements:

  • Blood:  EDTA or ACD (Solution A or B):
  • Adult: 5 mL
  • Child: 5 mL
  • Infant: 2-3 mL
  • Saliva: 2 ORAgene Saliva Kits (OGR-500)
  • Skin Fibroblast: Punch Biopsy, or 2 T-25 confluent flasks
  • DNA: 3-4µg at a minimum of 50-100ng/µL (DNA must be extracted in a CLIA-certified laboratory or a laboratory meeting equivalent requirements as determined by the CAP and/or CMS)

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):

Weekly

Turn Around Time:

8 weeks

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cold, but not frozen. 
  • Ship via overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.

References:

  1. Genetics Home Reference: CADASIL https://ghr.nlm.nih.gov/condition/cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy
  2. Genetics Home Reference: CARASIL: https://ghr.nlm.nih.gov/condition/cerebral-autosomal-recessive-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy
  3. Genetics Home Reference: Familial hemiplegic migraine https://ghr.nlm.nih.gov/condition/familial-hemiplegic-migraine

Additional Info: