Clinical and research tests for C1275808 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
PHOX2B sequencing of the entire coding sequence and splice sites Molecular Diagnostics Ann and Robert H. Lurie Children's Hospital of Chicago United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PHOX2B deletion/duplication testing Molecular Diagnostics Ann and Robert H. Lurie Children's Hospital of Chicago United States	1	1	D Deletion/duplication analysis
Invitae Hypopigmentation Panel Labcorp Genetics (formerly Invitae) LabCorp United States	83	46	D Deletion/duplication analysis
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics, part of Exact Sciences United States	346	160	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Anomalies of the Gastrointestinal Tract Panel PreventionGenetics, part of Exact Sciences United States	297	180	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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

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