Clinical and research tests for CNGA1 OR CRX OR PDE6G OR RBP3 OR ROM1 OR CLRN1 OR LRAT OR AIPL1 OR ARL6 OR CFAP418 OR ABCA4 OR CNGB1 OR GUCA1B OR IDH3B OR IMPDH1 OR MAK OR ATP6 OR COX3 OR ND1 OR ND2 OR ND3 OR ND4 OR ND5 OR ND6 OR TRNI OR TRNK OR TRNL1 OR TRNL2 OR TRNV OR TRNW OR NEK2 OR NRL OR PDE6A OR PDE6B OR PRPH2 OR RGR OR RHO OR RLBP1 OR RP9 OR RP1 OR RP2 OR RPGR OR RPE65 OR SAG OR TULP1 OR USH2A OR BEST1 OR PROM1 OR PRPF4 OR PRPF3 OR NR2E3 OR TOPORS OR MERTK OR PRPF8 OR SNRNP200 OR CRB1 OR PRPF6 OR FSCN2 OR PRPF31 OR IMPG2 OR SPATA7 OR KIZ OR KLHL7 OR SLC7A14 OR SEMA4A OR DHDDS OR FAM161A OR TTC8 OR ZNF513 OR RDH12 OR EYS OR CERKL OR PCARE OR PRCD - Genetic Testing Registry (GTR)

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Results: 1 to 20 of 1263

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
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region 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
CentoVision Panel Centogene AG - the Rare Disease Company Germany	417	413	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Retinitis Pigmentosa Panel PreventionGenetics, part of Exact Sciences United States	91	82	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Genomic Unity® Retinal Disorders Analysis Variantyx, Inc. United States	1	394	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Retinitis Pigmentosa Panel CGC Genetics Unilabs Portugal	1	203	C Sequence analysis of the entire coding region
Diseases of the posterior ocular segment (WES based NGS panel of 307 gene, including CNV analysis) CGC Genetics Unilabs Portugal	1	307	C Sequence analysis of the entire coding region
Hereditary Retinopathy Panel Mendelics Brazil	1	321	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
Mental retardation - different panels Institute of Human Genetics Cologne University Germany	7	2536	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Retinal Dystrophy Panel Molecular Vision Laboratory United States	372	283	C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Retinitis Pigmentosa NGS Panel Fulgent Genetics United States	329	124	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Eye Disorders NGS Panel Fulgent Genetics United States	1018	459	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Retinal Dystrophy Panel CGC Genetics Unilabs Portugal	1	306	C Sequence analysis of the entire coding region
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Retinitis Pigmentosa NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	103	92	C Sequence analysis of the entire coding region
Retinal Dystrophy Panel Blueprint Genetics Finland	1	260	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 1 to 20 of 1263

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.

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Results: 1 to 20 of 1263

Results: 1 to 20 of 1263