Clinical and research tests for 209880 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Central hypoventilation syndrome, congenital, 209880, Autosomal dominant (Ondine syndrome) (EDN3 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
Central hypoventilation syndrome, congenital, 209880, Autosomal dominant (Ondine syndrome) (RET 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
Central hypoventilation syndrome, congenital, 209880, Autosomal dominant (Ondine syndrome) (BDNF 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
Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880, Autosomal dominant (Haddad syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Central hypoventilation syndrome, congenital, 209880, Autosomal dominant (Ondine syndrome) (RET 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
Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880, Autosomal dominant (Haddad syndrome) (PHOX2B 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
Central hypoventilation syndrome, 209880, Autosomal dominant (Haddad syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Central hypoventilation syndrome, congenital, 209880, Autosomal dominant (Ondine syndrome) (BDNF 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
Central hypoventilation syndrome, 209880, Autosomal dominant (Haddad syndrome) (GDNF 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
Central hypoventilation syndrome, congenital, 209880, Autosomal dominant (Ondine syndrome) (EDN3 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
Central hypoventilation syndrome, 209880, Autosomal dominant (Haddad syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Central hypoventilation syndrome, congenital, 209880, Autosomal dominant; CCHS (Ondine syndrome) (ASCL1 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
Central hypoventilation syndrome, congenital, 209880, Autosomal dominant (Ondine syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Central hypoventilation syndrome, congenital, 209880, Autosomal dominant (Ondine syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880, Autosomal dominant (Haddad syndrome) (PHOX2B 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
Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880, Autosomal dominant (Haddad syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Central hypoventilation syndrome, 209880, Autosomal dominant (Haddad syndrome) (GDNF 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
Central hypoventilation syndrome, congenital, 209880, Autosomal dominant; CCHS (Ondine syndrome) (ASCL1 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
Central hypoventilation syndrome, congenital, 209880, Autosomal dominant (Ondine syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Central hypoventilation syndrome, congenital, 209880, Autosomal dominant (Ondine syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis

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