Clinical and research tests for C1859209 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MEOX1 - 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
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Deafness Panel Labcorp Genetics (formerly Invitae) LabCorp United States	405	219	D Deletion/duplication analysis
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	624	349	D Deletion/duplication analysis
Klippel-Feil syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	5	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Klippel-Feil syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	5	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Klippel-Feil syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	5	5	C Sequence analysis of the entire coding region T Targeted variant analysis
Klippel-Feil syndrome 2, 214300, Autosomal recessive; KFS2 (Isolated Klippel-Feil syndrome) (MEOX1 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
Klippel-Feil syndrome 2, 214300, Autosomal recessive; KFS2 (Isolated Klippel-Feil syndrome) (MEOX1 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
Klippel-Feil Syndrome Panel PreventionGenetics, part of Exact Sciences United States	9	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Klippel-Feil syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	5	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Klippel-Feil syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	5	5	C Sequence analysis of the entire coding region T Targeted variant analysis
Klippel-Feil syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	5	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Klippel-Feil Syndrome via the MEOX1 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
Comprehensive Hearing Loss + mtDNA MNG Laboratories (Medical Neurogenetics, LLC.) United States	218	300	C Sequence analysis of the entire coding region
Klippel-Feil syndrome: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	4	4	C Sequence analysis of the entire coding region
KLIPPEL-FEIL SYNDROME Laboratorio de Genetica Clinica SL Spain	4	4	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
Selected Genetic Syndromes with skeletal involvement Panel CeGaT GmbH Germany	36	42	C Sequence analysis of the entire coding region
Isolated Klippel-Feil syndrome type 1 Bioarray Spain	1	1	C Sequence analysis of the entire coding region

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