Clinical and research tests for C4225386 - Genetic Testing Registry (GTR)

Results: 1 to 20 of 20

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CNTNAP1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States	971	680	D Deletion/duplication analysis
Lethal Contracture Syndrome 7 via the CNTNAP1 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 contracture syndrome extended Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	10	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel HNL Genomics Connective Tissue Gene Tests United States	13	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital contracture syndrome extended NGS panel HNL Genomics Connective Tissue Gene Tests United States	10	31	C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital contracture syndrome extended Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	10	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lethal congenital contracture syndrome and related disorders NGS Panel HNL Genomics Connective Tissue Gene Tests United States	13	22	C Sequence analysis of the entire coding region T Targeted variant analysis
Lethal congenital contracture syndrome and related disorders Comprehensive Panel HNL Genomics Connective Tissue Gene Tests United States	13	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Lethal congenital contracture syndrome 7, 616286, Autosomal recessive; LCCS7 (Hypomyelination neuropathy-arthrogryposis syndrome) (CNTNAP1 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
Lethal congenital contracture syndrome 7, 616286, Autosomal recessive; LCCS7 (Hypomyelination neuropathy-arthrogryposis syndrome) (CNTNAP1 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
Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel HNL Genomics Connective Tissue Gene Tests United States	13	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lethal congenital contracture syndrome and related disorders NGS Panel HNL Genomics Connective Tissue Gene Tests United States	13	22	C Sequence analysis of the entire coding region T Targeted variant analysis
Lethal congenital contracture syndrome and related disorders Comprehensive Panel HNL Genomics Connective Tissue Gene Tests United States	13	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital contracture syndrome extended Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	10	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital contracture syndrome extended Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	10	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital contracture syndrome extended NGS panel HNL Genomics Connective Tissue Gene Tests United States	10	31	C Sequence analysis of the entire coding region T Targeted variant analysis
Arthrogryposis panel. NGS panel of 69 genes. Genologica Medica Spain	135	69	C Sequence analysis of the entire coding region
Lethal congenital contracture syndrome: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	11	11	C Sequence analysis of the entire coding region
Congenital Contractures NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	81	57	C Sequence analysis of the entire coding region

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Results: 1 to 20 of 20

Results: 1 to 20 of 20