Clinical and research tests for C4721436 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
EGR2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuropathy, congenital hypomyelinating, 605253, Autosomal recessive, Autosomal dominant; CHN (Charcot-Marie-Tooth disease type 4E) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Neuropathy, congenital hypomyelinating, 605253, Autosomal recessive, Autosomal dominant; CHN (Charcot-Marie-Tooth disease type 4E) (MPZ 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
Neuropathy, congenital hypomyelinating, 1, 605253, Autosomal recessive, Autosomal dominant (Charcot-Marie-Tooth disease type 4E) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Neuropathy, congenital hypomyelinating, 605253, Autosomal recessive, Autosomal dominant; CHN (Charcot-Marie-Tooth disease type 4E) (MPZ 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
Neuropathy, congenital hypomyelinating, 1, 605253, Autosomal recessive, Autosomal dominant (Charcot-Marie-Tooth disease type 4E) (EGR2 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
Neuropathy, congenital hypomyelinating, 605253, Autosomal recessive, Autosomal dominant; CHN (Charcot-Marie-Tooth disease type 4E) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Neuropathy, congenital hypomyelinating, 1, 605253, Autosomal recessive, Autosomal dominant (Charcot-Marie-Tooth disease type 4E) (EGR2 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
Neuropathy, congenital hypomyelinating, 1, 605253, Autosomal recessive, Autosomal dominant (Charcot-Marie-Tooth disease type 4E) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
NeuromuscularZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	480	254	C Sequence analysis of the entire coding region
Charcot-Marie-Tooth disease Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	50	43	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Charcot-Marie-Tooth disease NGS panel HNL Genomics Connective Tissue Gene Tests United States	50	43	C Sequence analysis of the entire coding region T Targeted variant analysis
Charcot-Marie-Tooth disease Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	50	43	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Atrial fibrillation NGS test HNL Genomics Connective Tissue Gene Tests United States	22	19	C Sequence analysis of the entire coding region T Targeted variant analysis
Atrial fibrillation Comprehensive test HNL Genomics Connective Tissue Gene Tests United States	22	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Atrial fibrillation Deletion / Duplication test HNL Genomics Connective Tissue Gene Tests United States	22	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Neuropathies Panel Invitae United States	201	96	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Charcot-Marie Tooth Disease Comprehensive Panel Invitae United States	123	52	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Arthrogryposis panel. NGS panel of 69 genes. Genologica Medica Spain	135	69	C Sequence analysis of the entire coding region
Arthrogryposis Panel GeneDx United States	156	91	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.