Genetic Panel Search
Search the department’s current targeted NGS panels by panel name, clinical area, or gene symbol.
- Current panels
- 58
- Clinical categories
- 14
- Distinct gene symbols
- 3,600
- Largest panel
- 1,740 genes
Panel titles, gene counts and gene content are reproduced from the department’s current panel source document (PANEL LİSTESİ V9) as confirmed by the department. Nothing is added, expanded or inferred here. Panel composition may be revised; the version in force at the time of testing applies.
Metabolic & Mitochondrial 6
- Metabolic Core Panel Metabolic & Mitochondrial 835 genes
- Metabolic Extended Panel Metabolic & Mitochondrial 1,104 genes
- Nuclear Gene–Related Mitochondrial Disorders Panel Metabolic & Mitochondrial 225 genes
- Glycogen Storage Disorders Panel Metabolic & Mitochondrial 29 genes
- Mucopolysaccharidosis Panel Metabolic & Mitochondrial 19 genes
- Cholestasis Panel Metabolic & Mitochondrial 210 genes
Neurology & Neurodevelopment 7
- Epilepsy Panel Neurology & Neurodevelopment 707 genes
- Non-Syndromic Epilepsy Panel Neurology & Neurodevelopment 39 genes
- Parkinson Disease Panel Neurology & Neurodevelopment 95 genes
- Dystonia Panel Neurology & Neurodevelopment 350 genes
- Spinocerebellar Ataxia Panel Neurology & Neurodevelopment 696 genes
- Neurodevelopmental Delay, Intellectual Disability, Autism Spectrum Disorder and Hypotonia Panel Neurology & Neurodevelopment 1,740 genes
- Hereditary Spastic Paraplegia Panel Neurology & Neurodevelopment 132 genes
Neuromuscular 6
- Congenital Myasthenic Syndromes Panel Neuromuscular 88 genes
- Muscular Dystrophy Core Panel Neuromuscular 118 genes
- Muscular Dystrophy Extended Panel Neuromuscular 885 genes
- Charcot–Marie–Tooth Disease Panel Neuromuscular 76 genes
- Comprehensive Polyneuropathy Panel Neuromuscular 294 genes
- Myopathy Panel Neuromuscular 154 genes
Cardiovascular 4
Hereditary Cancer 4
Immunology & Autoinflammatory 4
- Hemophagocytic Syndromes Panel Immunology & Autoinflammatory 26 genes
- Severe Combined Immunodeficiency Panel Immunology & Autoinflammatory 30 genes
- Comprehensive Inborn Errors of Immunity Panel Immunology & Autoinflammatory 435 genes
- Autoinflammatory Disorders Panel Immunology & Autoinflammatory 117 genes
Hematology & Bone Marrow Failure 5
- Thrombocytopenia Panel Hematology & Bone Marrow Failure 65 genes
- Platelet and Coagulation Disorders Panel Hematology & Bone Marrow Failure 74 genes
- Hereditary Anemias Panel Hematology & Bone Marrow Failure 42 genes
- Fanconi Anemia Panel Hematology & Bone Marrow Failure 28 genes
- Congenital Neutropenia Panel Hematology & Bone Marrow Failure 39 genes
Endocrine & Metabolic Endocrinology 6
- Disorders/Differences of Sex Development Panel Endocrine & Metabolic Endocrinology 275 genes
- Hypogonadism Panel Endocrine & Metabolic Endocrinology 212 genes
- MODY Panel Endocrine & Metabolic Endocrinology 77 genes
- Panhypopituitarism Panel Endocrine & Metabolic Endocrinology 46 genes
- Thyroid Dysgenesis and Dyshormonogenesis Panel Endocrine & Metabolic Endocrinology 34 genes
- Monogenic Obesity Panel Endocrine & Metabolic Endocrinology 67 genes
Renal 1
Respiratory 4
Dermatology 2
Ophthalmology & Hearing 2
Skeletal & Connective Tissue 3
Syndromic & Multisystem 4
No current panel matches that query.
How to read the catalogue
Panels are grouped by clinical category so that a phenotype leads to a shortlist of relevant panels. Hereditary cancer panels are requested through Hereditary Cancer Genomics rather than with rare disease, because they answer a germline predisposition question.
Each panel page states the gene count confirmed by the department and lists every gene symbol in source order. Where a source count and the number of symbols enumerated disagree, both figures are reported rather than silently reconciled.
Panel selection is a clinical decision. Breadth is a trade-off: a broad panel raises diagnostic yield for a non-specific presentation but also the number of variants of uncertain significance requiring interpretation. Panel choice is made in consultation with the referring clinician.