Rare Diseases

Focusing specifically on rare
disease genes using monogenic risk panels, a whole genome test can deliver
powerful benefits for diagnosis, management, and family planning:

All Genetic testing packages come with Genetic Counseling or GP service

Monogenic Risk Panels for Rare Diseases

Monogenic panels screen for pathogenic or likely pathogenic variants in genes where a mutation in a single gene (monogenic) is known to cause a rare disease. Most rare genetic disorders—such as cystic fibrosis, spinal muscular atrophy, and Tay-Sachs disease—are monogenic.

Rapid and Definitive Diagnosis
Ends the “diagnostic odyssey” for individuals or families with unexplained symptoms or developmental disorders by pinpointing the exact genetic cause.Enables earlier intervention, treatment and tailored care—crucial for many rare conditions where timing impacts outcomes.
CarrierDetection & Family Planning
Identifies carriers for hundreds of recessive rare diseases (e.g., cystic fibrosis, sickle cell disease, spinal muscular atrophy).Empowers individuals and couples to make informed reproductive decisions, understand risks to children, and consider options like preimplantation or prenatal genetic testing.
Informs Family Members
Once a disease-causing mutation is found, other family members can be tested to determine if they are carriers or at risk of developing the disease.Enables cascade testing — systematically identifying at-risk relatives for early diagnosis or prevention
Access to Targeted Therapies & Clinical Trials
Genetic diagnosis can open doors to specific treatments, newborn screening programs, specialist care, and eligibility for research studies or gene therapies that require a confirmed molecular diagnosis.

Examples of Monogenic Rare Diseases Identified via Panels

Cystic fibrosis (CFTR gene)
Spinal muscular atrophy (SMN1 gene)
Marfan syndrome (FBN1 gene)
Thalassemias and sickle cell disease (HBB, HBA1/2 genes)
Tay-Sachs disease (HEXA gene)
Phenylketonuria (PAH gene)
Duchenne muscular dystrophy (DMD gene)
Numerous metabolic, neuromuscular, and developmental syndromes

Why Monogenic Panels areTransformative for Rare Disease

Most rare diseases have a single-gene cause, making monogenic panels highly effective for both diagnosis and carrier screening.

Early and accurate genetic diagnosis can change the clinical course, improve quality of life, and provide psychological relief for families.

Monogenic testing is actionable—leading to clear next steps for treatment, prevention, and family care.

In summary:

Whole genome sequencing with a focus on monogenic rare disease panels is the gold standard for identifying the genetic basis of rare conditions, offering clarity and actionable answers for individuals and families affected by rare diseases. Genetic counseling is essential to interpret results and guide decisions.

  • Counselling

    Counselling

    £150.00
    £150.00
  • Preventis My New Born

    Preventis My New Born

    £799.00
    £799.00