Clinical and research tests for C3150672 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 53

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Arthrogryposis, renal dysfunction, and cholestasis 2, 613404, Autosomal recessive; ARCS2 (Arthrogryposis-renal dysfunction-cholestasis syndrome) (VIPAS39 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Arthrogryposis, renal dysfunction, and cholestasis 2, 613404, Autosomal recessive; ARCS2 (Arthrogryposis-renal dysfunction-cholestasis syndrome) (VIPAS39 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Platelet Function Disorder Panel Versiti Diagnostic Laboratories Versiti, Inc United States	40	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Inherited Thrombocytopenia Panel Versiti Diagnostic Laboratories Versiti, Inc United States	40	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	525	339	C Sequence analysis of the entire coding region
Arthrogryposis-Renal Dysfunction-Cholestasis (ARC) Syndrome via the VIPAS39 Gene PreventionGenetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cholestasis panel. NGS panel of 46 genes. Genologica Medica Spain	88	46	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
Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain	374	169	C Sequence analysis of the entire coding region
Arthrogryposis, renal dysfunction, and cholestasis: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	2	2	C Sequence analysis of the entire coding region
Comprehensive Bleeding Disorder Panel Versiti Diagnostic Laboratories Versiti, Inc United States	80	50	D Deletion/duplication analysis C Sequence analysis of the entire coding region
VIPAS39 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	1	1	D Deletion/duplication analysis
VIPAS39 - Genetic Analysis Versiti Diagnostic Laboratories Versiti, Inc United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hereditary coagulation diseases (WES based NGS panel of 103 genes, including CNV analysis) Unilabs Genetics CGC Genetics Portugal	162	103	C Sequence analysis of the entire coding region
Cholestasis (neonatal, familial intrahepatic and differential diagnoses - WES based NGS panel of 95 genes, including CNV analysis) Unilabs Genetics CGC Genetics Portugal	165	94	C Sequence analysis of the entire coding region
Lysosomal and peroxisomal diseases (NGS panel of 122 genes) Unilabs Genetics CGC Genetics Portugal	185	122	C Sequence analysis of the entire coding region
Hereditary ichthyosis (WES based NGS panel of 57 genes, including CNV analysis) Unilabs Genetics CGC Genetics Portugal	90	57	C Sequence analysis of the entire coding region
Arthrogryposis (WES based NGS panel for 240 genes, including CNV analysis) Unilabs Genetics CGC Genetics Portugal	451	240	C Sequence analysis of the entire coding region
Arthrogryposis (sequence analysis of VIPAS39 gene) Unilabs Genetics CGC Genetics Portugal	1	1	C Sequence analysis of the entire coding region
Arthrogryposis (NGS panel for 49 genes) Unilabs Genetics CGC Genetics Portugal	88	49	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.