Clinical and research tests for C3838731 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Renal Stone/Electrolyte Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	82	71	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Familial hyperaldosteronism type I (Chimeric CYP11B1/CYP11B2 gene) Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS Chile	1	2	T Targeted variant analysis
Invitae Expanded Renal Disease Panel Invitae United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoMetabolic MOx Centogene AG - the Rare Disease Company Germany	195	221	A Analyte D Deletion/duplication analysis C Sequence analysis of the entire coding region
Infertility Panel Centogene AG - the Rare Disease Company Germany	243	238	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Disorders of Sex Development Panel Invitae United States	88	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Aldosteronism, glucocorticoid-remediable, 103900, Autosomal dominant; HALD1 (Familial hyperaldosteronism type I) (CYP11B1 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
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis 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
qGenEx Sex development disorders Quantitative Genomic Medicine Laboratories, SL Spain	45	48	C Sequence analysis of the entire coding region
CYP11B1 Sequence Analysis Baylor Genetics United States	2	1	C Sequence analysis of the entire coding region
CYP11B1 Prenatal Sequence Analysis Baylor Genetics United States	2	1	E Sequence analysis of select exons
CYP11B1 Familial Mutation/Variant Analysis Baylor Genetics United States	2	1	E Sequence analysis of select exons
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
Congenital adrenal hyperplasia panel. 9-gene NGS panel. Genologica Medica Spain	14	9	C Sequence analysis of the entire coding region
Genital Abnormalities / Sex Development Disorders Panel Genologica Medica Spain	95	49	C Sequence analysis of the entire coding region
11-Beta-Hydroxylase Gene (CYP11B1) Mutations Duzen Laboratories Duzen BBAGUAS Turkey	2	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
Hyperaldosteronism: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	4	4	C Sequence analysis of the entire coding region
Congenital Adrenal Hyperplasia NGS Panel Fulgent Genetics United States	32	8	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.