Clinical and research tests for C1970269 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
NKX2-1 mutation analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NKX2-1 - Sanger sequencing Centogene AG - the Rare Disease Company Germany	3	1	C Sequence analysis of the entire coding region
Pulmonary Panel Centogene AG - the Rare Disease Company Germany	99	101	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Invitae Surfactant Metabolism Panel Invitae United States	40	19	D Deletion/duplication analysis
Invitae Neonatal Respiratory Distress Panel Invitae United States	163	111	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States	638	419	D Deletion/duplication analysis
Neonatal Respiratory Distress Panel PreventionGenetics, part of Exact Sciences United States	7	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978, Autosomal dominant (Brain-lung-thyroid syndrome) (NKX2-1 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
Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978, Autosomal dominant (Brain-lung-thyroid syndrome) (NKX2-1 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
Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978, Autosomal dominant (Brain-lung-thyroid syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978, Autosomal dominant (Brain-lung-thyroid syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
PulmZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	163	128	C Sequence analysis of the entire coding region
Interstitial Lung Disease Panel PreventionGenetics, part of Exact Sciences United States	26	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Pulmonary Fibrosis and Surfactant Dysfunction Disorders Panel PreventionGenetics, part of Exact Sciences United States	8	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Dystonia Exome Genetic Services Laboratory University of Chicago United States	93	170	C Sequence analysis of the entire coding region
Congenital Hypothyroidism (Thyroid Dysgenesis) via the NKX2-1/TTF1 Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Hypothyroidism and Thyroid Hormone Resistance Panel PreventionGenetics, part of Exact Sciences United States	32	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Panel of surfactant dysfunction and neonatal respiratory distress Genologica Medica Spain	7	5	C Sequence analysis of the entire coding region
Hypothyroidism and thyroid hormone resistance panel. NGS panel of 21 genes. Genologica Medica Spain	42	21	C Sequence analysis of the entire coding region

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