Clinical and research tests for C4014939 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Expanded Renal Disease Panel Invitae United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FAT4 - 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 Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Panel Invitae United States	67	41	D Deletion/duplication analysis
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States	755	562	D Deletion/duplication analysis
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication analysis
Invitae Brain Malformations Panel Invitae United States	247	161	D Deletion/duplication analysis
Non-Immune Hydrops Fetalis Panel PreventionGenetics, part of Exact Sciences United States	291	148	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hennekam lymphangiectasia-lymphedema syndrome 2, 616006, Autosomal recessive; HKLLS2 (Hennekam syndrome) (FAT4 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
Hennekam lymphangiectasia-lymphedema syndrome 2, 616006, Autosomal recessive; HKLLS2 (Hennekam syndrome) (FAT4 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
Van Maldergem syndrome 2, 615546, Autosomal recessive; VMLDS2 (Cerebro-facio-articular syndrome) (FAT4 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
Ambiguous Genitalia Panel PreventionGenetics, part of Exact Sciences United States	128	85	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel Invitae United States	177	130	D Deletion/duplication analysis
Invitae Primary Immunodeficiency Panel Invitae United States	552	424	D Deletion/duplication analysis
Invitae Agammaglobulinemia Panel Invitae United States	39	36	D Deletion/duplication analysis
Lymphedema Panel PreventionGenetics, part of Exact Sciences United States	15	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Lymphatic malformations and related disorders panel. NGS panel of 11 genes. Genologica Medica Spain	31	11	C Sequence analysis of the entire coding region
Neuronal migration disorder panel. NGS panel of 58 genes. Genologica Medica Spain	110	57	C Sequence analysis of the entire coding region
Lymphedema Sequencing Panel Seattle Children's Hospital Genetics Laboratories Seattle Children's United States	29	25	C Sequence analysis of the entire coding region
Vascular Anomalies (VANseq) Expanded Del/Dup Panel Seattle Children's Hospital Genetics Laboratories Seattle Children's United States	50	47	D Deletion/duplication analysis
Vascular Anomalies (VANseq) Expanded Sequencing Panel Seattle Children's Hospital Genetics Laboratories Seattle Children's United States	50	47	C Sequence analysis of the entire coding region

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