Clinical and research tests for 300333 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
RAB33A Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Expanded Renal Disease Panel Labcorp Genetics (formerly Invitae) LabCorp 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 Labcorp Genetics (formerly Invitae) LabCorp United States	95	45	D Deletion/duplication analysis
Invitae Comprehensive Deafness Panel Labcorp Genetics (formerly Invitae) LabCorp United States	405	219	D Deletion/duplication analysis
Invitae Alport Syndrome Panel Labcorp Genetics (formerly Invitae) LabCorp 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 Labcorp Genetics (formerly Invitae) LabCorp United States	310	195	D Deletion/duplication analysis
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
Alport syndrome panel. 6-gene NGS panel. Genologica Medica Spain	9	6	C Sequence analysis of the entire coding region
Nephropathy with pretibial epidermolysis bullosa and deafness Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Germany	1	1	C Sequence analysis of the entire coding region
Epidermolysis Bullosa Asper Biogene Asper Biogene LLC Estonia	48	25	C Sequence analysis of the entire coding region
CD151 Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Comprehensive Glomerular Proteinuria NGS Panel Fulgent Genetics United States	182	76	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Syndromic Hearing Loss NGS Panel Fulgent Genetics United States	223	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hearing Loss Advanced Sequencing and CNV Evaluation Athena Diagnostics United States	249	181	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Genetic Epidermolyses and blistering disorders Panel CeGaT GmbH Germany	23	19	C Sequence analysis of the entire coding region
CD151 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
Epilepsy MGZ Medical Genetics Center Germany	17	212	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.