Clinical and research tests for C2751308 - Genetic Testing Registry (GTR) - NCBI

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

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 36

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
PDE6C - 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
CentoVision Panel Centogene AG - the Rare Disease Company Germany	417	413	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Achromatopsia Panel Invitae United States	7	8	D Deletion/duplication analysis
Cone dystrophy 4, 613093, Autosomal recessive; COD4 (Progressive cone dystrophy) (PDE6C 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
MVL Vision Panel Molecular Vision Laboratory United States	342	268	C Sequence analysis of the entire coding region
Cone-Rod Dystrophy Panel PreventionGenetics United States	37	35	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
Achromatopsia via the PDE6C Gene PreventionGenetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Achromatopsia (ACHM) Panel PreventionGenetics United States	7	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Achromatopsia - PDE6C Sequencing Children's Hospital Colorado Precision Diagnostics Laboratory Children's Hospital Colorado United States	1	1	C Sequence analysis of the entire coding region
Rod and cone dystrophy panel. 42-gene NGS panel. Genologica Medica Spain	65	41	C Sequence analysis of the entire coding region
Retinal dystrophy panel. 260 gene NGS panel. Genologica Medica Spain	420	257	C Sequence analysis of the entire coding region
Achromatopsia panel. 8-gene NGS panel. Genologica Medica Spain	8	8	C Sequence analysis of the entire coding region
PDE6C Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Cone-rod dystrophy/Cone dystrophy: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	23	22	C Sequence analysis of the entire coding region
Retinopathy and Optic Atrophy NGS Panel Fulgent Genetics United States	563	241	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Achromatopsia , Panel Massive Sequencing (NGS) 5 Genes Reference Laboratory Genetics Spain	5	5	C Sequence analysis of the entire coding region
Cone Rod Distrophy , Panel Massive Sequencing (NGS) 30 Genes Reference Laboratory Genetics Spain	29	30	C Sequence analysis of the entire coding region

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 36

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.