MendelScan brings early disease identification to healthcare providers.

How it works

The MendelScan algorithm captures disease features from electronic health records across a patient population.

Patients are matched to published diagnostic criteria for 100s of rare diseases (and counting).

Mendelian’s Clinical Team and Disease Specialists perform an extended medical history review.

Healthcare providers receive a MendelScan report describing the suspected disease, why it’s suspected for that patient and the diagnostic pathway.

Healthcare providers decide the best way to help each patient by combining their clinical expertise with the novel insights from MendelScan

How it works

The MendelScan algorithm captures disease features from electronic health records across a patient population.

Patients are matched to published diagnostic criteria for 100s of rare diseases (and counting).

Mendelian’s Clinical Team and Disease Specialists perform an extended medical history review.

Healthcare providers receive a MendelScan report describing the suspected disease, why it’s suspected for that patient and the diagnostic pathway.

Healthcare providers decide the best way to help each patient by combining their clinical expertise with the novel insights from MendelScan

The diseases we cover

We've developed algorithms to detect features of the diseases listed here.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

  • Acute intermittent porphyria
  • Addison disease
  • Alkaptonuria
  • Alpers-Huttenlocher Syndrome
  • Alpha-1-antitrypsin deficiency
  • Alpha-mannosidosis
  • Alport syndrome
  • Alström syndrome
  • Amaurosis congenita of Leber
  • Apert syndrome
  • Argininosuccinatelyase deficiency
  • Arthrochalasia Ehlers-Danlos syndrome
  • Atypical osteogenesis imperfecta

  • Bardet-Biedl syndrome
  • Barth syndrome
  • Beckwith-Wiedemann syndrome
  • Behçet disease
  • Beta-ketothiolase deficiency

  • Carcinoid syndrome
  • Cardiac‐valvular Ehlers-Danlos syndrome
  • Ceroid lipofuscinosis, neuronal
  • Charcot-Marie-Tooth disease
  • Chronic Progressive External Ophthalmoplegia
  • Citrullinemia type II
  • Classic Ehlers-Danlos syndrome
  • Coffin-Lowry syndrome
  • Common Variable Immunodeficiency
  • Cystinosis

  • Dermatomyositis
  • DiGeorge Syndrome
  • Duane syndrome

  • Ehlers-Danlos syndrome

  • Fabry disease
  • Fibrodysplasia ossificans progressiva
  • Fragile X syndrome

  • Gaucher disease
  • Glycogen storage disease type II
  • Glycogen storage disease type V

  • Hartnup disease
  • Hereditary angioedema
  • Hereditary hemorrhagic telangiectasia
  • Homocystinuria due to cystathionine beta-synthase deficiency

  • Insulinoma
  • Isovaleric acidemia

  • At the moment we do not cover any disease with that letter.

  • Kyphoscoliotic Ehlers-Danlos syndrome

  • Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
  • Li-Fraumeni syndrome
  • Loeys-Dietz syndrome
  • Lowe syndrome

  • Marfan syndrome
  • Maternally Inherited Diabetes and Deafness
  • MELAS syndrome
  • Metachromatic leukodystrophy
  • Mitochondrial diseases
  • Mucopolysaccharidosis
  • Musculocontractural Ehlers-Danlos syndrome
  • Multiple myeloma
  • Myoclonic Epilepsy with Ragged Red Fibers
  • Myopathic Ehlers-Danlos syndrome

  • NARP syndrome (Neurogenic Muscle Weakness, Ataxia, and Retinitis Pigmentosa)
  • Neurofibromatosis type 1
  • Neurofibromatosis type 2
  • Niemann-Pick disease type B
  • Niemann-Pick disease type C

  • At the moment we do not cover any disease with that letter.

  • Porphyria, acute intermittent
  • Porphyria, erythropoietic
  • Prader-Willi syndrome
  • Primary biliary cirrhosis
  • Primary Hyperoxaluria
  • Propionic acidemia
  • PTEN hamartoma tumor syndrome

  • At the moment we do not cover any disease with that letter.

  • At the moment we do not cover any disease with that letter.

  • Sarcoidosis
  • Scleroderma
  • Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome (SANDO)
  • Stickler syndrome
  • Sucrase-isomaltase deficiency

  • Transthyretin (TTR) Amyloidosis
  • Tuberous sclerosis
  • Turner syndrome

  • At the moment we do not cover any disease with that letter.

  • Von Hippel-Lindau disease

  • Williams syndrome
  • Wolfram syndrome

  • X-linked hypophosphatemia

  • At the moment we do not cover any disease with that letter.

  • At the moment we do not cover any disease with that letter.

The work by Mendelian is a major step towards identifying undiagnosed patients and halting the diagnostic odyssey

Medics4RareDiseases

Mendelian fits into the NHS Long Term Plan and UK Strategy for Rare Diseases

Find out now

Partnerships

We’re on a mission to improve clinical care for rare disease patients everywhere. If you are aligned with this mission, we want to work with you.

Physicians
Life Sciences
Patient advocacy
Health Systems/CCGs