Klinische Fragestellung"Prenatal test panel, Sweden"

NGS + X

• Allelic: Bronchiectasis with/-out elevated sweat chloride 1, modifier of (CFTR)
• Allelic: Erythrocytosis 6 (HBB)
• Allelic: Erythrocytosis 7 (HBA1, HBA2)
• Allelic: Heinz body anemia (HBA2)
• Allelic: Heinz body anemia (HBB)
• Allelic: Heinz body anemias, alpha- (HBA1)
• Allelic: Hereditary persistence of fetal hemoglobin (HBB)
• Allelic: Hypertrypsinemia, neonatal (CFTR)
• Allelic: Malaria, resistance to (HBB)
• Allelic: Methemoglobinemia, alpha type (HBA1)
• Allelic: Methemoglobinemia, beta type (HBB)
• Allelic: Pancreatitis, hereditary (CFTR)
• Allelic: Sweat chloride elevation without CF (CFTR)
• Allelic: Vohwinkel syndrome (GJB2)
• Bart-Pumphrey syndrome (GJB2)
• Congenital bilateral absence of vas deferens (CFTR)
• Cystic fibrosis (CFTR)
• Deafness, AD (GJB2)
• Deafness, AR 1A (GJB2)
• Delta-beta thalassemia (HBB)
• Fragile X syndrome (FMR1_CCG)
• Fragile X tremor/ataxia syndrome (FMR1_CCG)
• Hemoglobin H disease, deletional + nondeletional (HBA2)
• Hemoglobin H disease, nondeletional (HBA1)
• Hystrix-like ichthyosis with deafness (GJB2)
• Keratitis-ichthyosis-deafness syndrome (GJB2)
• Keratoderma, palmoplantar, with deafness (GJB2)
• Premature ovarian failure 1 (FMR1_CCG)
• Sickle cell anemia (HBB)
• Spinal muscular atrophy-1, -2, -3, -4 (SMN1)
• Thalassemia, alpha- (HBA2)
• Thalassemia, beta (HBB)
• Thalassemia-beta, dominant inclusion-body (HBB)
• Thalassemias, alpha- (HBA1)