Klinische FragestellungHT amedes Mutationsträger-Test für Ashkenasi-Juden

NGS +

[Sanger]

Auf der Grundlage fachlicher Empfehlungen (1) bietet amedes ein NGS-Panel für Ashkenasi-Juden zur Erfassung von Genmutationen an, die mit monogen vererbten Krankheiten assoziiert sind. Es umfasst 18 Gene und die damit assoziierten Erbkrankheiten.

Referenz: (1) Gregg et al.; https://doi.org/10.1038/s41436-021-01203-z

• Alias: EHT amedes...
• Allelic: Arthrogryposis multiplex congenita 5 (TOR1A)
• Allelic: Bart-Pumphrey syndrome (GJB2)
• Allelic: Desmoid disease, hereditary (APC)
• Allelic: Fanconi anemia, complementation group D1 (BRCA2)
• Allelic: Fanconi anemia, complementation group S (BRCA1)
• Allelic: GM2-gangliosidosis, several forms (HEXA)
• Allelic: Glioblastoma 3 (BRCA2)
• Allelic: Hex A pseudodeficiency (HEXA)
• Allelic: Hypertrypsinemia, neonatal (CFTR)
• Allelic: Hystrix-like ichthyosis with deafness (GJB2)
• Allelic: Keratitis-ichthyosis-deafness syndrome (GJB2)
• Allelic: Keratoderma, palmoplantar, with deafness (GJB2)
• Allelic: Lewy body dementia, susceptibility to (GBA1)
• Allelic: Medulloblastoma (BRCA2)
• Allelic: Medulloblastoma (ELP1)
• Allelic: Oligosyndactyly of the hands, Cenani-Linz-like [panelapp] (GREM1)
• Allelic: Pancreatic cancer 2 (BRCA2)
• Allelic: Pancreatic cancer, susceptibility to, 4 (BRCA1)
• Allelic: Parkinson disease, late-onset, susceptibility to (GBA1)
• Allelic: Prostate cancer (BRCA2)
• Allelic: Sweat chloride elevation without CF (CFTR)
• Allelic: Vohwinkel syndrome (GJB2)
• Allelic: Wilms tumor (BRCA2)
• Adenomatous polyposis coli (APC)
• Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (CYP21A2)
• Bloom syndrome (BLM)
• Brain tumor-polyposis syndrome 2 (APC)
• Breast cancer, male, susceptibility to (BRCA2)
• Breast-ovarian cancer, familial, 1 (BRCA1)
• Breast-ovarian cancer, familial, 2 (BRCA2)
• Bronchiectasis with/-out elevated sweat chloride 1, modifier of (CFTR)
• Canavan disease (ASPA)
• Colorectal cancer, increased risk, association with [panelapp] (GREM1)
• Congenital bilateral absence of vas deferens (CFTR)
• Cystic fibrosis (CFTR)
• Deafness, AD 3A (GJB2)
• Deafness, AR 1A (GJB2)
• Dysautonomia, familial (ELP1)
• Dystonia-1, modifier of (TOR1A)
• Dystonia-1, torsion (TOR1A)
• Factor XI deficiency, AD (F11)
• Factor XI deficiency, AR (F11)
• Fanconi anemia, complementation group C (FANCC)
• Gardner syndrome (APC)
• Gastric adenocarcinoma + proximal polyposis of the stomach (APC)
• Gaucher disease, perinatal lethal (GBA1)
• Gaucher disease, type I (GBA1)
• Gaucher disease, type II, III, IIIC (GBA1)
• Glycogen storage disease Ia (G6PC1)
• Hereditary Mixed Polyposis Syndrome [panelapp] (GREM1)
• Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency (CYP21A2)
• Mixed polyposis syndrome [panelapp] (GREM1)
• Mucolipidosis IV (MCOLN1)
• Niemann-Pick disease, type A (SMPD1)
• Niemann-Pick disease, type B (SMPD1)
• Pancreatitis, hereditary (CFTR)
• Polyposis Syndrome, Hereditary Mixed, 1 [panelapp] (GREM1)
• Tay-Sachs disease (HEXA)