Cardiomyopathy

Parkinson, Alzheimer, and Dementia

“ASSESING THE RISK OF GERIATIC DISORDERS”

Being able to discover an accurate, timely diagnosis of current nonreversible declines in mental functionality is vital to building a future treatment plan. These diseases carry a significant burden on the client, the medical team, family, and friends. MicroGen Health is aware that every day available to implement proactive interventions could translate into weeks, months, or even years of beneficial life quality for the client.

In that spirit, our experts leverage our current panel to determine whether a client has inherited genetic mutations likely to result in geriatric or late-onset disorders such as Alzheimer’s, dementia, and Parkinson’s disease. Although each of these diagnoses tends to occur later in life, early onset is expected in the presence of inherited mutations.

MicroGen advises clients with a personal or family history of progressive memory loss, language disturbances, psychiatric manifestations, tremors, rigidity, bradykinesia, and postural abnormalities to seek genomic testing. We strongly encourage clients to seek advice and guidance from their primary physician for counseling and possible interventions. Our goal is to provide the correct information so a treatment choice can be made as soon as possible through lifestyle modulation, therapeutic aids, and nutritional interventions.

Genes

Alzheimer’s-dementia-Parkinson’s genomics panel covers 34 genes

Alzheimer’s disease

7 genes
  • APOE
  • PSEN1
  • APP
  • MAPT
  • PSEN2
  • CSF1R
  • TREM2

Dementia

4 genes
  • PRNP
  • C9orf72
  • SNCB
  • TYROBP

Dystonia

3 genes
  • ATP1A3
  • PRKRA
  • TAF1

Parkinson’s disease

16 genes
  • GCH1
  • PINK1
  • TH
  • LRRK2
  • ATP13A2
  • EIF4G1
  • FBXO7
  • GBA
  • HTRA2
  • PARK7
  • PLA2G6
  • PRKN
  • SLC6A3
  • UCHL1
  • VPS35

Perry syndrome

1 gene
  • DCTN1

When and Why to do Alzheimer, Dementia, and Parkinson Genomics Testing?

The earlier clients can be tested, the better. If a client is concerned about the possibility of a future diagnosis, they should reach out to their primary care provider for guidance. That provider will most likely review certain personal history and background medical information to determine if testing would be appropriate. Some of the reasons for ordering this test include:

  • Personal or family history of cancer
  • Age of onset of symptoms at a very young age
  • Several first-degree relatives having dementia or tremors

Steps Involved in Alzheimer, Dementia, and Parkinson Genomics Testing

Sample Collection and Transport

Primary physicians should first conduct a pre-test genetic counseling session with their patients before referring them for testing. This is so all the appropriate questions are answered about the potential benefits and limitations of the test. There will then be a trained laboratory technician that will collect a whole blood sample or buccal swab of the client into a specific testing container. That sample will then be sent to our labs in a safe, temperature-controlled setting.

Test Procedure

Genomic DNA will be carefully extracted from the collected sample by our expert technicians using the latest technology. Our lab will then assess the quality and quantity of the sample for genetic markers using generation sequencing. Our Bioinformatics tools will be implemented to understand the nature of any possible variants according to the guidelines set out by the American College of Medical Genetics (ACMG) and the Association for Molecular Pathology (AMP).

Test Report

The presence of pathogenic or likely pathogenic variants is indicated as a “positive” result. A positive result in a person affected may suggest an inherited mutation. A positive result in an asymptomatic individual suggests the possibility of potential high-risk, which could mean the need for either nutritional, therapeutic, or lifestyle interventions to reduce the risk of future diagnosis.

The presence of benign or likely benign variants is indicated as a “negative” result. This will inform the client’s physician on possible next steps, including evaluating other non-genetic causes for the specified phenotype. Post-test genetic counseling is suggested to help decide whether other members of the client’s family need to undergo this same genetic testing.

Customer Service

At MicroGen, we strive to provide only evidence-backed test results using experienced technicians and experts with the latest technology. We protect our client’s privacy according to industry standards and seek to have a professional customer interaction each and every time. If you would like to begin your test or have any other questions, please reach out to our team using our contact page. Thank you for considering MicroGen Health for your health care diagnostics.

Disorders covered in the panel

Gene Disease Inheritance
APOE Alzheimer AD
PRNP Dementia AR
GCH1 Parkinson AD
PINK1 Parkinson AR
PSEN1 Alzheimer AD
APP Alzheimer AD
GRN Neuronal ceroid lipofuscinosis 11 AD
MAPT Alzheimer AD
POLG Mitochondrial DNA depletion syndrome 4A AD
PSEN2 Alzheimer AD
TH Parkinson AR
LRRK2 Parkinson AD
ATP13A2 Parkinson AR
ATP1A3 Dystonia12 AD
C9orf72 Dementia, amyotrophic lateral sclerosis AD
CSF1R Alzheimer AD
DCTN1 Perry syndrome AD
DNMT1 Hereditary sensory neuropathy Type Ie AD
EIF4G1 Parkinson AD
FBXO7 Parkinson AR
GBA Parkinson AD
HTRA2 Parkinson AD
NOTCH3 Lateral Meningocele syndrome AD
PARK7 Parkinson AR
PLA2G6 Parkinson AR
PRKN Parkinson AR
PRKRA Dystonia16 AR
SLC6A3 Parkinsonism AR
SNCA Parkinson AD
SNCB Dementia AD
TAF1 Dystonia3 X-linked
TREM2 Alzheimer AR
TYROBP Dementia AR
UCHL1 Parkinson AD
VPS35 Parkinson AD

AD: autosomal dominant; AR: autosomal recessive

  • Specimen requirements

    Blood, Tissue

  • Turn around time:

    1021 calendar days (14 days on average)

  • CPT Codes:

    81161, 81405, 81406, 81407, 81439

    NOTE: The CPT codes listed on the website are in accordance with Current Procedural Terminology, a publication of the American Medical Association. CPT codes are provided here for the convenience of our clients. Clients who bill for services should make the final decision on which codes to use.

  • Coverage:

    99.0% of targeted genomic regions at 20X coverage or higher

Resources/References

Beckmann, B.M., Pfeufer, A., & Kääb, S. Inherited cardiac arrhythmias: diagnosis, treatment, and prevention. Dtsch Arztebl Int. 2011 Sep;108(37):623-33 (2011) Kimura, A. Molecular genetics and pathogenesis of cardiomyopathy. J Hum Genet. Jan;61(1):41-50 (2016)