Clinical and research tests for 1585 - Genetic Testing Registry (GTR)

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Results: 21 to 40 of 61

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	525	338	C Sequence analysis of the entire coding region
WES metabolic disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	625	E Sequence analysis of select exons
GeneAware™ Expanded Panel (Female) Baylor Genetics United States	1	422	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
GeneAware™ Expanded Panel (Male) Baylor Genetics United States	1	382	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GeneAware™ Expanded Plus Panel (Female) Baylor Genetics United States	1	446	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
GeneAware™ Expanded Plus Panel (Male) Baylor Genetics United States	1	401	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Pseudohypoaldosteronism (WES based NGS panel of 9 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	9	C Sequence analysis of the entire coding region
Idiopathic renal failure on young (NGS panel of 173 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	173	C Sequence analysis of the entire coding region
Nephrology Panel CGC Genetics Unilabs Portugal	1	334	C Sequence analysis of the entire coding region
Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency , Familial hyperaldosteronism type 1 , Familial hypoaldosteronism , 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (deletions/duplications in the CYP CGC Genetics Unilabs Portugal	1	3	D Deletion/duplication analysis
Hyperaldosteronism (sequence analysis of CYP11B2 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Hyperaldosteronism (deletion/duplication analysis on CYP11B2 gene) CGC Genetics Unilabs Portugal	1	1	D Deletion/duplication analysis
Neonatal Baby Cheek Screening Test Mendelics Brazil	1	342	C Sequence analysis of the entire coding region
Treatable Disorders Panel Mendelics Brazil	1	369	C Sequence analysis of the entire coding region
FAMILIAL HYPERALDOSTERONISM TYPE I . Complete sequencing Laboratorio de Genetica Clinica SL Spain	1	2	E Sequence analysis of select exons
NEPHROTIC SYNDROME EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	89	E Sequence analysis of select exons
MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES) Laboratorio de Genetica Clinica SL Spain	1	1372	E Sequence analysis of select exons
Monogenic Hypertension Genetic Panel MNG Laboratories (Medical Neurogenetics, LLC.) United States	16	11	C Sequence analysis of the entire coding region
Horizon 274 Male Natera, Inc. United States	244	254	E Sequence analysis 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.

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Results: 21 to 40 of 61

Results: 21 to 40 of 61