Dementia and Alzheimer’s Disease

Dementia encompasses a group of neurodegenerative disorders, with Alzheimer’s disease (AD) and frontotemporal dementia (FTD) being among the most extensively studied. While most cases are sporadic, up to 40% of FTD cases and 1–5% of AD cases have a monogenic (inherited) basis.

The GENOSOPHY® Genetic Test includes 61 genes associated with autosomal dominant, autosomal recessive, and mitochondrial forms of dementia, offering comprehensive genetic screening for diagnosis, prognosis, and family risk assessment.

Conditions Covered by the Test

• Alzheimer’s disease (AD) – including detection of the APOE ε4 allele in homozygosity, which is associated with significantly increased risk for Alzheimer’s disease
• Frontotemporal dementia (FTD)
• Hereditary leukodystrophies
• Amyotrophic lateral sclerosis (ALS) & other neurodegenerative disorders
• Mitochondrial dementia syndromes

Clinical Benefits

Diagnosis

• Detection of pathogenic variants linked to neurodegenerative conditions
• Differentiation between sporadic and hereditary forms of dementia

Prognosis

• Risk assessment for Alzheimer’s disease and FTD
• Evaluation of potential disease progression

Management

• Guidance for personalized monitoring and management to slow disease progression
• Family genetic counseling and risk analysis for relatives

Testing Process

1. Sample collection (blood or saliva)
2. Analysis of 61 genes related to dementia and Alzheimer’s disease
3. Results delivered within ~5 weeks

Consultation and interpretation of the genetic results by professors of the Medical School of the National and Kapodistrian University of Athens (NKUA) is available as a separate service.

Genes Included in the Genetic Panel

ABCA7, APOE, APP, CHMP2B, CSF1R, FUS, GRN, IGHG3, MAPT,
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2,
MT-TA, MT-TC, MT-TD, MT-TE, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TW, MT-TY, MT-TV,
PSEN1, PSEN2, PRNP, RNF216*, SIGMAR1, SORL1, SNCA, STAG3, TARDBP*, TREM2, TUBA4A, UBQLN2, UBE3A*, VCP, ZNF655

Note: In addition to sequencing all coding exons, the GENOSOPHY® genetic test also analyzes numerous non-coding variants, such as promoter regions and introns. Detection sensitivity for single nucleotide variants (SNVs), indels, and copy number variants (CNVs) is >99%.
Sensitivity may be slightly lower for genes marked with an asterisk (*).