Clinical and research tests for 977 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Comprehensive Nephrology Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	299	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Genomic Unity® Hearing Loss Disorders Analysis Variantyx, Inc. United States	1	318	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Invitae Expanded Renal Disease Panel Invitae United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoHear Panel Centogene AG - the Rare Disease Company Germany	203	194	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Epidermolysis Bullosa and Palmoplantar Keratoderma Panel Invitae United States	95	45	D Deletion/duplication analysis
Invitae Comprehensive Deafness Panel Invitae United States	405	219	D Deletion/duplication analysis
Invitae Alport Syndrome Panel Invitae United States	9	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 (Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome) (CD151 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
Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 (Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome) (CD151 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 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
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
Epidermolysis bullosa (WES based NGS panel of 23 genes, including analysis of CNVs) CGC Genetics Unilabs Portugal	1	23	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
Hearing loss Panel CGC Genetics Unilabs Portugal	1	277	C Sequence analysis of the entire coding region
Epidermolyisis Bullosa Panel Mendelics Brazil	1	25	C Sequence analysis of the entire coding region
NEPHROTIC SYNDROME EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	89	E Sequence analysis of select exons
Alport Syndrome Panel GeneDx United States	1	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Inherited Loss of Hearing Panel Dhiti Omics Technologies Private Ltd India	8	179	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.