Hereditary Neurodegenerative Disease Panel
Detect risk factor genes associated with neurodegenerative disorders
An accurate, timely diagnosis of a nonreversible decline in mental function is crucial to ensure a personalized and data-driven treatment plan is provided to the patient. Early-stage support can help avoid unnecessary struggles and expenses associated with missed treatment opportunities.
GenviewDX offers our Hereditary Neurodegenerative panel, which examines 161 genes associated with an increased risk of developing neurodegenerative disorders and detects both the diagnostic and risk factor genes for Dementia, Alzheimer’s, Par kinson’s, and more.
Dementia
Dementia is a relatively common disease in people over the age of 60 with a prevalence of 5-7%.1 Dementia con sists of cognitive and behavioral symptoms that interfere with usual activities and represent a decline from previ ous function.2 Many forms of dementia are thought to be multifactorial and are genetically complex diseases; how ever, some have been shown to be due to distinct genetic causes.3
Frontotemporal dementia (FTD)
In contrast to Alzheimer’s disease, FTD is more frequent ly seen in patients younger than 65 and may present as changes in behavior and personality or as language diffi culties.6 Up to 40% have a family history of FTD. Autoso mal dominant mode of inheritance has been identified in 10% of patients.7
Alzheimer’s Disease
Alzheimer’s is the most common type of dementia, and typically begins with subtle failure of memory that pro gresses over time until it becomes incapacitating. Ap proximately 25% of all Alzheimer’s is familial, discovered through family history and molecular genetic testing. Less than 10% of Alzheimer disease is early onset, and is like ly an inherited disease. Three genes have been linked to early onset Alzheimer disease, accounting for a majority of cases: APP, PSEN1, PSEN2.4 5 3
Parkinson’s Disease
The second most common neurodegenerative disease, and has prevalence in approximately 1% of people over the age of 60. It typically consists of motor features such as tremor and muscle rigidity, but can also include cog
nitive decline and dementia.8 Causes can be genetic and environmental, but 5-10% of patients have a monogenic form caused by mutations in a specific gene.8
Genes List
- ACADM CDKL5 G6PC1 MFN2 PNKD SPAST
- ADNP CERT1 GAA MPV17 POLG SPG11
- AFF2 CHD2 GABRG2 MPZ POLG2 SPTLC1
- ALDH7A1 CNOT3 GALT MTHFR PPP2R2B STXBP1
- ANG CNTN6 GAMT MTM1 PRNP SUCLA2
- APOE COL4A1 GARS1 NDP PRRT2 SUCLG1
- APP COQ2 GATM NDUFA1 PSEN1 SYNGAP1
- APTX COX10 GBA1 NLGN3 PSEN2 TAFAZZIN
- ARSA CSNK2A1 GBE1 NLGN4X PTEN TARDBP
- ARX CSTB GCH1 NOTCH3 REEP1 TCF4
- ASPA CTNND2 GJB1 NPC1 RRM2B TH
- ASXL1 DGUOK GRIN2A NSD1 SCN1A THAP1
- ATM DHCR7 GRN NTRK1 SCN1B TK2
- ATN1 DPYD HBB NTRK2 SCN2A TOR1A
- ATP1A2 EGR2 HEXA OPA1 SCN8A TPP1
- ATP7B EHMT1 HFE OPTN SCO1 TSC1
- BCKDHA ELP1 HSPB1 PABPN1 SCO2 TSC2
- BCKDHB EN2 KCNQ2 PAH SETX TTR
- BCL11A ERBB4 KDM5C PCDH19 SGCE TWNK
- BCS1L EZH2 L1CAM PDGFB SLC16A2 TYMP
- BLM FANCC LRRK2 PDHA1 SLC25A4 UBA1
- BSCL2 FBXO11 MAPT PDSS2 SLC2A1 ZEB2
- C12orf4 FOXG1 MBOAT7 PIK3CA SLC6A8 ZNF41
- CACNA1A FOXP1 MCOLN1 PINK1 SLC9A6
- CACNA1C FTSJ1 MECP2 PLCG2 SMN1
- CC2D1A FUS MED12 PMP22 SOD1
Important Questions
Frequently Asked Questions
Have a question? You might find the answer below in our FAQs!
Who can use Simplicity Diagnostics?
Simplicity Diagnostics works with physicians, medical practices, clinics, hospitals, and other healthcare organizations.
How do I become a provider?
Getting started is simple. Complete our Become a Provider form, and our team will contact you to help with enrollment and next steps.
What types of testing do you offer?
We offer a range of diagnostic and specialty testing, including genetic and genomic testing, pharmacogenomics (PGx), oncology-related testing, metabolic testing, immunology, toxicology, and other specialty laboratory services.
How quickly will we receive results?
Many tests have a typical turnaround time of 24–48 hours, although turnaround times vary depending on the specific test and specimen requirements.
How do I order a test?
Once your practice is set up as a provider, our team will provide the information and resources needed to order testing and submit specimens.
How are test results delivered?
Test results are delivered securely through our provider workflow. Our team can help your practice understand the process and access results.
Can your team help our office choose the right test?
Yes. If your practice has questions about test selection, specimen requirements, ordering, or other laboratory-related needs, our provider support team is available to assist.
What specimen types do you accept?
Specimen requirements vary by test. Please refer to the specific test information or contact our provider support team before collecting or shipping a specimen.
Do you work with insurance?
Insurance coverage and patient responsibility can vary by test, patient, and plan. Our team can provide information about the billing process and available options.
Can I speak with someone about setting up my practice?
Absolutely. Contact our team and we can walk your practice through the process of becoming a Simplicity Diagnostics provider.
Why should my practice choose Simplicity Diagnostics?
We focus on making laboratory testing simple for healthcare providers through reliable testing, fast turnaround times, a broad test menu, and responsive provider support.
How do I get started?
The first step is simple: Become a Simplicity Diagnostics provider.
