Monogenic obesity is a rare but clinically significant genetic form of obesity caused by mutations in genes involved in the regulation of appetite, metabolism, and energy balance. Patients with monogenic obesity typically present with severe, early-onset weight gain, often starting in childhood, and may exhibit associated endocrine or metabolic features.
The GENOSOPHY® Monogenic Obesity Panel includes 57 genes, using Next-Generation Sequencing (NGS) to detect pathogenic variants associated with hypothalamic axis disorders and energy metabolism.
Who Should Consider This Test?
- Children with severe early-onset obesity (before the age of 5), especially when associated with hyperphagia
- Individuals with resistance to traditional weight-loss interventions, despite balanced diet and physical activity
- Families with multiple members presenting early-onset obesity
- Patients with suspected syndromic forms of obesity, related to endocrine or neurological disorders
Syndromes Covered by the GENOSOPHY® Test
- The panel includes genes associated with monogenic obesity and syndromes in which obesity is a prominent feature of a broader clinical picture:
- Severe, early-onset obesity due to pathogenic variants in genes such as LEP, LEPR, MC4R, POMC, PCSK1, SIM1
- Bardet-Biedl Syndrome – obesity, kidney dysfunction, polydactyly, and vision impairment
- Cohen Syndrome – obesity, intellectual disability, and distinctive facial features
- Alström Syndrome – obesity, hearing and vision loss, and cardiomyopathy
Clinical Benefits
Diagnosis
- Accurate identification of the genetic cause of obesity
- Differential diagnosis between monogenic and polygenic obesity
Prognosis
- Risk assessment for related metabolic or endocrine complications
- Prediction of disease course and treatment response
Management
- Personalized treatment strategies, including pharmacologic and nutritional interventions
- Carrier detection for genetic counseling, prenatal, or preimplantation testing
Explore GENOSOPHY®’s genetic-guided nutrition and lifestyle services on our website.
Test Procedure
- Saliva or blood sample collection
- Sequencing of 57 genes involved in monogenic obesity using NGS technology
- Results delivered in approximately 5–6 weeks
Optional: Expert genetic counseling and interpretation by Professors from the Medical School of the National and Kapodistrian University of Athens (EKPA)
Genes Included in the Panel
ACBD6, ADCY3, AKR1C2, ALMS1*, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8orf37, CEP164, CEP19, CEP290*, CPE, CUL4B, DYRK1B, GNAS, HTR2C, IFT172, IFT27, IFT74, INPP5E, KIDINS220, KSR2, LEP, LEPR, LZTFL1, MAGEL2, MC3R, MC4R, MKS1, MKKS, MRAP2, MYT1L, NR0B2, NTRK2, PCSK1, PGM2L1, PHF6, PHIP, POMC, PPARG, SCAPER, SDCCAG8, SH2B1, SIM1, TTC8, TRIM32, TUB, UCP3, VPS13B, WDPCP
Note: In addition to coding regions (exons), the test includes analysis of non-coding variants, including promoters and introns, which may have clinical relevance. Detection sensitivity for SNVs, indels, and CNVs is >99%. Sensitivity may be slightly lower in genes marked with an asterisk (*).
