Clinical and research tests for C1863732 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 20 of 22

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
KIF22 - 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
CentoNephro Panel Centogene AG - the Rare Disease Company Germany	498	498	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNephro Plus Panel Centogene AG - the Rare Disease Company Germany	499	499	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	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
Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546, Autosomal dominant; SEMDJL2 (Spondyloepimetaphyseal dysplasia with multiple dislocations) (KIF22 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
Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546, Autosomal dominant; SEMDJL2 (Spondyloepimetaphyseal dysplasia with multiple dislocations) (KIF22 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
Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States	166	101	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Spondyloepimetaphyseal dysplasia with joint laxity Comprehensive Panel HNL Genomics Connective Tissue Gene Tests United States	2	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Spondyloepimetaphyseal dysplasia with joint laxity Deletion / Duplication Panel HNL Genomics Connective Tissue Gene Tests United States	2	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Spondylo-Epi-Metaphyseal dysplasias NGS panel HNL Genomics Connective Tissue Gene Tests United States	79	54	C Sequence analysis of the entire coding region T Targeted variant analysis
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	79	54	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Spondyloepimetaphyseal dysplasia with joint laxity NGS Panel HNL Genomics Connective Tissue Gene Tests United States	2	2	C Sequence analysis of the entire coding region T Targeted variant analysis
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	79	54	D Deletion/duplication analysis C Sequence analysis of the entire coding region
KIF22 Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Spondyloepimetaphyseal dysplasia with joint laxity, type 2 (sequence analysis of KIF22 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Spondylometaphyseal / spondyloepimetaphyseal dysplasia panel. 28-gene NGS panel. Genologica Medica Spain	69	28	C Sequence analysis of the entire coding region
Spondyloepimetaphyseal dysplasia with joint laxity: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	6	6	C Sequence analysis of the entire coding region
Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel CeGaT GmbH Germany	27	27	C Sequence analysis of the entire coding region
KIF22 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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