Clinical and research tests for C0002066 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Alkaptonuria Myriad Genetics, Inc. United States	1	1	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
CentoMetabolic MOx Centogene AG - the Rare Disease Company Germany	195	205	A Analyte D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoScreen Centogene AG - the Rare Disease Company Germany	316	314	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
HGD - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Tyrosine Disorders Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	3	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HGD - Alkaptonuria Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	326	300	C Sequence analysis of the entire coding region
Alkaptonuria via the HGD 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
Organic Acid Screen - Urine Baylor Genetics United States	19	44	A Analyte
Linkage analysis for Alcaptonuria Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital India	1	1	L Linkage analysis
Alkaptonuria: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
Super Panel Plus NxGen MDx United States	116	117	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Super Panel 113 NxGen MDx United States	113	115	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Alkaptonuria (HGD Single Gene Test) Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Female Carrier Screening Plus Panel Fulgent Genetics United States	716	335	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Male Carrier Screening Panel Fulgent Genetics United States	636	298	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Male Carrier Screening Plus Panel Fulgent Genetics United States	661	306	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.