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Catalog ID ALS ALS Identified (sponsored free genetic testing)

Important Note

Sponsored free ALS genetic testing is open to residents of the US and Puerto Rico over 18 years of age with a diagnosis of Amyotrophic Lateral Sclerosis.

Specimen

4 mL EDTA whole blood or Invitae buccal swab kit

Rejection Criteria

incorrect specimen type, patient doesn't meeting eligibility criteria

Interpretative Information

Broad Disorders Tested

  • Amyotrophic lateral sclerosis (ALS)
  • Frontotemporal dementia (FTD)

Individual Disorders Tested

  • amyotrophic lateral sclerosis and/or frontotemporal dementia 1 (FTDALS1)
  • amyotrophic lateral sclerosis 1 (ALS1)
  • amyotrophic lateral sclerosis 10 with or without frontotemporal dementia (ALS10)
  • amyotrophic lateral sclerosis 12 (ALS12)
  • amyotrophic lateral sclerosis 15 with or without frontotemporal dementia (ALS15)
  • amyotrophic lateral sclerosis 18 (ALS18)
  • amyotrophic lateral sclerosis 19 (ALS19)
  • amyotrophic lateral sclerosis 23 (ALS23)
  • amyotrophic lateral sclerosis 25 (ALS25)
  • amyotrophic lateral sclerosis 4 (ALS4)
  • amyotrophic lateral sclerosis 6 with or without frontotemporal dementia (ALS6)
  • amyotrophic lateral sclerosis 8 (ALS8)
  • amyotrophic lateral sclerosis 9 (ALS9)
  • frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (FTDALS2)
  • frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4)
  • hereditary motor and sensory neuropathy, Okinawa type (HMSNO)
  • inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 (IBMPFD1), amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (ALS14)
  • juvenile amyotrophic lateral sclerosis 5 (ALS5)
  • juvenile primary lateral sclerosis (JPLS), juvenile amyotrophic lateral sclerosis 2 (ALS2)
  • Paget disease of bone (PDB3), neurodegeneration with ataxia, dystonia and gaze palsy (NADGP)
  • Perry syndrome, distal hereditary motor neuropathy type VIIB (HMN7B)
  • Tay-Sachs disease, beta-hexosaminidase A (HEXA) deficiency

Performing Lab

Invitae

Turn-Around-Time

10-21 days

Reference Values

No mutations detected