Clinical and research tests for C1855794 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Bamforth-Lazarus syndrome, 241850, Autosomal recessive (Bamforth-Lazarus syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Bamforth-Lazarus syndrome, 241850, Autosomal recessive (Bamforth-Lazarus syndrome) (FOXE1 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
Bamforth-Lazarus syndrome, 241850, Autosomal recessive (Bamforth-Lazarus syndrome) (FOXE1 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
Bamforth-Lazarus syndrome, 241850, Autosomal recessive (Bamforth-Lazarus syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Cleft Lip/Cleft Palate Panel PreventionGenetics, part of Exact Sciences United States	177	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cleft lip, cleft palate and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	19	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cleft lip, cleft palate and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	19	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cleft lip, cleft palate and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	19	17	C Sequence analysis of the entire coding region T Targeted variant analysis
Bamforth-Lazarus Syndrome via the FOXE1 Gene PreventionGenetics, part of Exact Sciences United States	1	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
Hypothyroidism and thyroid hormone resistance panel. NGS panel of 21 genes. Genologica Medica Spain	42	21	C Sequence analysis of the entire coding region
Cleft lip panel, cleft palate and associated syndromes. 16-gene NGS panel. Genologica Medica Spain	49	16	C Sequence analysis of the entire coding region
Bamforth-Lazarus syndrome: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
Female Infertility Asper Biogene Asper Biogene LLC Estonia	85	64	C Sequence analysis of the entire coding region
Cleft Palate/Lip NGS Panel Fulgent Genetics United States	127	23	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Hypothyroidism , Panel Massive Sequencing 20 Genes Reference Laboratory Genetics Spain	24	19	C Sequence analysis of the entire coding region
qGenEx Craniofacial Anomalies Quantitative Genomic Medicine Laboratories, SL Spain	135	136	C Sequence analysis of the entire coding region
Hypothyroidism Panel Genetic Services Laboratory University of Chicago United States	11	33	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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