Clinical and research tests for C1860339 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Waardenburg Syndrome, Type 2 - MITF Gene Center for Genetics at Saint Francis Saint Francis Hospital United States	1	1	C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
Common Hereditary Cancer Screening Panel PreventionGenetics, part of Exact Sciences United States	94	55	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
MITF - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Microphthalmia/Anophthalmia/Coloboma Panel PreventionGenetics, part of Exact Sciences United States	73	55	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Waardenburg syndrome, type 2A, 193510, Autosomal dominant; WS2A (Waardenburg syndrome type 2) (MITF 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
Waardenburg syndrome, type 2A, 193510, Autosomal dominant; WS2A (Waardenburg syndrome type 2) (MITF 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 Genetic Health Screen Invitae United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cancer Screen Invitae United States	160	62	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Variant Resolution Test for CustomNext-Cancer® (+RNAinsight®) Ambry Genetics United States	147	18	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Variant Resolution Test for MelanomaNext® (+RNAinsight®) Ambry Genetics United States	40	3	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Hereditary Hearing Loss and Deafness Panel PreventionGenetics, part of Exact Sciences United States	360	222	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Anterior Segment Dysgenesis Disorders Panel PreventionGenetics, part of Exact Sciences United States	272	278	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
MelanomaNext® Ambry Genetics United States	40	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CustomNext-Cancer® Ambry Genetics United States	147	91	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CancerNext-Expanded® Ambry Genetics United States	122	71	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Waardenburg syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	8	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Waardenburg syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	8	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Waardenburg syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	8	7	C Sequence analysis of the entire coding region T Targeted variant analysis
Macrocephaly Panel Genetic Services Laboratory University of Chicago United States	26	68	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.