T-cell acute lymphoblastic leukemia, somatic, 613065 (Acute lymphoblastic leukemia) (BAX gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Brachydactyly, type B2, 611377, Autosomal dominant; BDB2 (Brachydactyly type B2) (NOG gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Asthma, susceptibility to, 600807, Autosomal dominant (SCGB3A2 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Anorexia nervosa, susceptibility to, 606788 (HTR2A gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Basal cell nevus syndrome, 109400, Autosomal dominant (Gorlin syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
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Birt-Hogg-Dube syndrome, 135150, Autosomal dominant; BHD (Birt-Hogg-Dubé syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
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C8 deficiency, type II, 613789, Autosomal recessive (Immunodeficiency due to a late component of complement deficiency) (Immunodeficiency due to a late component of complement deficiency) (C8B gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Asplenia, isolated congenital, 271400, Autosomal dominant; ICAS (Familial isolated congenital asplenia) (RPSA gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Branchiootic syndrome 1, 602588, Autosomal dominant; BOS1 (Branchio-otic syndrome) (EYA1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Axenfeld-Rieger syndrome, type 1, 180500, Autosomal dominant; RIEG1 (Axenfeld-Rieger syndrome) (PITX2 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Campomelic dysplasia, 114290, Autosomal dominant (Campomelic dysplasia) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
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Beckwith-Wiedemann syndrome, 130650, Autosomal dominant (Beckwith-Wiedemann syndrome) (H19 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835, X-linked recessive; XLANP (X-linked dyserythropoetic anemia with abnormal platelets and neutropenia) (GATA1 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Beckwith-Wiedemann syndrome, 130650, Autosomal dominant (Beckwith-Wiedemann syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
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Beckwith-Wiedemann syndrome, 130650, Autosomal dominant; BWS (Beckwith-Wiedemann syndrome) (NSD1 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377, Autosomal recessive; CEMCOX1 (Fatal infantile cytochrome C oxidase deficiency) (SCO2 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Atelosteogenesis, type I, 108720, Autosomal dominant; AO1 (Atelosteogenesis type I) (FLNB gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Breast-ovarian cancer, familial, susceptibility to, 3, 613399; BROVCA3 (Hereditary breast and ovarian cancer syndrome) (RAD51C gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Basal laminar drusen, 126700, Autosomal dominant (Familial drusen) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
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Breast-ovarian cancer, familial, 1, 604370, Autosomal dominant, Multifactorial; BROVCA1 (Hereditary breast and ovarian cancer syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
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