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

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Cholestasis Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	8	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Fanconi renotubular syndrome 3, 615605, Autosomal dominant; FRTS3 (Primary Fanconi syndrome) (EHHADH 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
Fanconi renotubular syndrome 3, 615605, Autosomal dominant; FRTS3 (Primary Fanconi syndrome) (EHHADH 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
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	527	338	C Sequence analysis of the entire coding region
WES mitochondrial disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	369	E Sequence analysis of select exons
Genomic Unity® Renal Disorders Analysis Variantyx, Inc. United States	1	425	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Lysosomal and peroxisomal diseases (WES based NGS panel of 122 genes, including analysis of CNVs) CGC Genetics Unilabs Portugal	1	122	C Sequence analysis of the entire coding region
Skeletal Diseases Panel Mendelics Brazil	1	333	C Sequence analysis of the entire coding region
MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES) Laboratorio de Genetica Clinica SL Spain	1	1372	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
Fanconi renotubular syndrome 3 Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Germany	1	1	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
EHHADH 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
Cholestasis NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	104	73	C Sequence analysis of the entire coding region
Autism/ID Xpanded Panel GeneDx United States	2	2592	D Deletion/duplication analysis C Sequence analysis of the entire coding region
EpiXpanded Panel GeneDx United States	1	1501	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NewbornDx Advanced Sequencing Evaluation Athena Diagnostics United States	1	1722	C Sequence analysis of the entire coding region
Fanconi renotubular syndrome: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	3	3	C Sequence analysis of the entire coding region
Hereditary hepatic diseases (55 genes) Center for Human Genetics Cliniques Universitaires Saint Luc Belgium	36	55	C Sequence analysis of the entire coding region
Lipid Metabolism Deficiency NGS Panel Fulgent Genetics United States	80	71	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.