Clinical and research tests for C0342488 - 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
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 Renal Tubular Disorders Panel Invitae United States	68	39	D Deletion/duplication analysis
Invitae Neonatal Respiratory Distress Panel Invitae United States	163	111	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Apparent mineralocorticoid excess, 218030, Autosomal recessive; AME (Apparent mineralocorticoid excess) (HSD11B2 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
Apparent mineralocorticoid excess, 218030, Autosomal recessive; AME (Apparent mineralocorticoid excess) (HSD11B2 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 Progressive Renal Disease Panel Invitae United States	310	195	D Deletion/duplication analysis
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	527	338	C Sequence analysis of the entire coding region
Apparent Mineralocorticoid Excess via the HSD11B2 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
HSD11B2 Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Pseudohypoaldosterolism panel. NGS panel of 10 genes. Genologica Medica Spain	15	10	C Sequence analysis of the entire coding region
Apparent mineralocorticoid excess: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
11-beta-hydroxysteroid dehydrogenase Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Monogenic Hypertension Genetic Panel MNG Laboratories (Medical Neurogenetics, LLC.) United States	16	11	C Sequence analysis of the entire coding region
Bartter Syndrome Asper Biogene Asper Biogene LLC Estonia	36	24	C Sequence analysis of the entire coding region
Bartter Syndrome NGS Panel Fulgent Genetics United States	39	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Pseudohypoaldosteronism , Panel Massive Sequencing (NGS) 9 Genes Reference Laboratory Genetics Spain	7	9	C Sequence analysis of the entire coding region
Bartter Syndrome and related disorders , Panel Massive Sequencing (NGS) 22 Genes Reference Laboratory Genetics Spain	21	22	C Sequence analysis of the entire coding region
11-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY TYPE 2 Laboratorio de Genetica Clinica SL Spain	1	1	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.