Diagnostic panels facilitate genetic diagnosis via sequencing of the whole EXOME and the subsequent interpretation of a subset of genes related to a specific condition.
They are intended for cases where there is a suspicion of disease.
Targeted Panels
Portfolio
ACMG81
ACTA2, ACTC1, ACVRL1, APC, APOB, ATP7B, BAG3, BMPR1A, BRCA1, BRCA2, BTD, CACNA1S, CALM1, CALM2, CALM3, CASQ2, COL3A1, DES, DSC2, DSG2, DSP, ENG, FBN1, FLNC, GAA, GLA, HFE, HNF1A, KCNH2, KCNQ1, LDLR, LMNA, MAX, MEN1, MLH1, MSH2, MSH6, MUTYH, MYBPC3, MYH11, MYH7, MYL2, MYL3, NF2, OTC, PALB2, PCSK9, PKP2, PMS2, PRKAG2, PTEN, RB1, RBM20, RET, RPE65, RYR1, RYR2, SCN5A, SDHAF2, SDHB, SDHC, SDHD, SMAD3, SMAD4, STK11, TGFBR1, TGFBR2, TMEM127, TMEM43, TNNC1, TNNI3, TNNT2, TP53, TPM1, TRDN, TSC1, TSC2, TTN, TTR, VHL, WT1
Cardiology
myCardio, Aneurysm & aortic dissection, Arrhythmias, Cardiomyopathies, Congenital cardiopathies, Familial hypercholesterolemia, MODY diabetes, Pulmonary arterial hypertension, Sudden death
Dermatology
Autosomal recessive congenital ichthyosis, Cutis laxa, Ectodermal dysplasia, Epidermolysis bullosa, Hypotrichosis non syndromic, Ichthyosis & erythrokeratoderma, Palmoplantar keratoderma, Skin cancer, Tuberous sclerosis
Endocrinology I
Congenital hyperinsulinism, Hypoglycemia, Ketotic hypoglycemia, MODY diabetes, Monogenic diabetes, Neonatal diabetes
Endocrinology II
Congenital adrenal hyperplasia, Congenital hypothyroidism, Early onset lipodystrophy, Familial hyperparathyroidism, Hyperthyroidism, Lipodystrophy and insulin resistance, Multiple endocrine neoplasia MEN1 & MEN2-like
Gastroenterology
Atresia, Cholestasis, Congenital hepatic fibrosis, Hirschsprung disease, Infantile enterocolitis & monogenic inflammatory bowel disease, Isolated anorectal malformations (non syndromic), Neuromuscular disease of the gastrointestinal tract, Pancreatitis, Polycystic liver disease
Immunology
Agammaglobulinemia, Autoimmune and autoinflammatory syndromes, Autoimmune lymphoproliferative disorders, Common variable immunodeficiencies, Complement deficiency disorders, Congenital diarrhea, Cytopenias and inborn errors of immunity, Familial hemophagocytic iymphohistiocytosis, Familial mediterranean fever, Hereditary angioedema, Hyper IgE syndrome, Hyper IgM syndrome, Monogenic inflammatory bowel disease, Periodic fever syndromes, Phagocytic disorders including neutropenia, Telomere related diseases
Nephrology
Congenital anomalies of the kidney and urinary tract, Hemolytic uremic syndrome, Idiopathic renal failure early onset, Kidney pathology comprehensive panel, Nephrogenic diabetes insipidus, Nephrolithiasis nephrocalcinosis, Polycystic kidney disease, Tubulointerstitial kidney disease
Neurology
Amyotrophic lateral sclerosis, Ataxia, Autism spectrum disorders, Comprehensive panel muscular dystrophy & congenital myopathy, Early onset dementia & dementia in older adults, Emery-Dreyfuss muscular dystrophy, Epilepsy, Hereditary neuropathies (includes Charcot-Marie-Tooth), Hereditary spastic paraparesis, Infantile nystagmus, Leukodystrophy - white matter disease, Limb girdle muscular dystrophy, Neurofibromatosis, Neuromuscular disorders comprehensive panel, Parkinson disease, Spinal muscular atrophy, Tuberous sclerosis, X-linked intellectual disability, Dystonia, chorea and other hyperkinetic movement disorders, Leukodystrophy- White Matter Disease Early Onset
Oncology
myCancerRisk, Breast and ovarian cancer, Colorectal cancer, Gastric cancer, Genetic predisposition to hematological malignancies, Glioma, Gynecological cancer, Kidney cancer, Pancreatic cancer, Prostate cancer, Skin cancer, Solid tumors in adults, Sarcomas
Ophthalmology
Anophthalmia and microphthalmia, Cataracts, Coloboma, Corneal anomalies, Glaucoma, Infantile nystagmus, Optic neuropathy (Leber included), Retinopathy, Usher syndrome
Otorhinolaryngology
Choanal atresia, Hearing loss comprehensive panel, Meniere disease, Syndromic hearing loss, Usher syndrome
Pneumology
Bronchiectasis including cystic fibrosis, Ciliopathies and respiratory disease, Familial spontaneous pneumothorax, Pulmonary arterial hypertension, Familial Pulmonary Fibrosis, including Cystic Fibrosis
Urology
Congenital adrenal hyperplasia, Lynch syndrome, Nephrolithiasis, Pheochromocytoma, Prostate cancer, Renal cancer, Sarcomas, Urothelium
