Clinical and research tests for C3554279 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
TAB2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoCardio Panel Centogene AG - the Rare Disease Company Germany	289	275	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication analysis
Frontometaphyseal dysplasia Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	3	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Frontometaphyseal dysplasia NGS panel HNL Genomics Connective Tissue Gene Tests United States	3	3	C Sequence analysis of the entire coding region T Targeted variant analysis
Frontometaphyseal dysplasia Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	3	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Nonsyndromic Congenital Heart Disease Panel PreventionGenetics, part of Exact Sciences United States	54	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital heart defects, nonsyndromic, 2, 614980, Autosomal dominant (TAB2 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
Congenital heart defects, nonsyndromic, 2, 614980, Autosomal dominant (TAB2 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
Frontometaphyseal dysplasia Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	3	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Frontometaphyseal dysplasia NGS panel HNL Genomics Connective Tissue Gene Tests United States	3	3	C Sequence analysis of the entire coding region T Targeted variant analysis
Frontometaphyseal dysplasia Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	3	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital heart disease NGS panel HNL Genomics Connective Tissue Gene Tests United States	14	15	C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital heart disease Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	14	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital heart disease Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	14	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Congenital Heart Disease Panel Invitae United States	107	55	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Xpanded - Congenital Heart Defects Panel GeneDx United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TAB2 Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Congenital heart defects, nonsyndromic 2 (sequence analysis of TAB2 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Congenital structural heart disease panel. NGS panel of 62 genes. Genologica Medica Spain	113	62	C Sequence analysis of the entire coding region

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