Clinical and research tests for C1847024 - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

<< First< Prev

Page 1 of 3

Results: 1 to 20 of 43

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
TYR gene sequencing GENETIX Centro de Investigación en Genética Humana y Reproductiva Colombia	2	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
TYR - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Intellectual Disability Panel Centogene AG - the Rare Disease Company Germany	777	770	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoVision Panel Centogene AG - the Rare Disease Company Germany	417	413	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	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
CentoSkin Panel Centogene AG - the Rare Disease Company Germany	157	151	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Albinism, oculocutaneous, type IB, 606952; OCA1B (Oculocutaneous albinism type 1) (TYR 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 Inherited Retinal Disorders Panel Invitae United States	486	293	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Broad Carrier Screen without X-linked Disorders Invitae United States	195	98	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Broad Carrier Screen Invitae United States	224	112	D Deletion/duplication analysis 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
Hypopigmentation Panel PreventionGenetics United States	39	33	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Oculocutaneous Albinism (OCA) Panel PreventionGenetics United States	18	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
TYR mutation analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TYR Sequence Analysis Baylor Genetics United States	4	1	C Sequence analysis of the entire coding region
Oculocutaneous Albinism Type 1 (OCAI) via the TYR Gene PreventionGenetics United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Oculocutaneous Albinism, Type 1 - TYR Sequencing Children's Hospital Colorado Precision Diagnostics Laboratory Children's Hospital Colorado United States	3	1	C Sequence analysis of the entire coding region

<< First< Prev

Page 1 of 3

Results: 1 to 20 of 43

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.