Clinical and research tests for 9971 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
NR1H4 Gene Cholestasis, infantile, NR1H4 related NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
NR1H4 Gene Intrahepatic cholestasis of pregnancy, NR1H4 related NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
NR1H4 - 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
CentoNephro Panel Centogene AG - the Rare Disease Company Germany	498	498	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNephro Plus Panel Centogene AG - the Rare Disease Company Germany	499	499	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Cholestasis Panel Invitae United States	210	134	D Deletion/duplication analysis
Cholestasis Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	8	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cholestasis Panel PreventionGenetics, part of Exact Sciences United States	130	69	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypoglycemia Panel - Expanded PreventionGenetics, part of Exact Sciences United States	131	115	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cholestasis, progressive familial intrahepatic, 5, 617049, Autosomal recessive (NR1H4 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
Cholestasis, progressive familial intrahepatic, 5, 617049, Autosomal recessive (NR1H4 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
Invitae Hyperammonemia Panel Invitae United States	75	72	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Next Generation Sequencing for Jaundice Associated Genes Variation Test National Taiwan University Hospital A1 Center National Taiwan University Hospital Taiwan	4	73	C Sequence analysis of the entire coding region
Progressive familial intrahepatic cholestasis (WES based NGS panel of 5 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	5	C Sequence analysis of the entire coding region
Chronic Cholestatic Diseases Panel Mendelics Brazil	1	17	C Sequence analysis of the entire coding region
CHOLESTASIS (PROGRESSIVE/NEONATAL FAMILIAL INTRAHEPATIC) EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	8	E Sequence analysis of select exons
Inherited Metabolic Disorders Panel Dhiti Omics Technologies Private Ltd India	376	317	C Sequence analysis of the entire coding region
Cholestasis panel. NGS panel of 46 genes. Genologica Medica Spain	88	46	C Sequence analysis of the entire coding region
Congenital liver fibrosis panel. NGS panel of 52 genes. Genologica Medica Spain	89	50	C Sequence analysis of the entire coding region
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons 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.