Clinical and research tests for 1413 - 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 33

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CRYBA4 Gene Cataract type 23 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
CRYBA4 - 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
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
Cataract 23, 610425; CTRCT23 (Early-onset lamellar cataract) (CRYBA4 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
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
Comprehensive Cataracts Panel PreventionGenetics, part of Exact Sciences United States	161	174	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cataract Amplexa Genetics Amplexa Genetics A/S Denmark	1	47	S Mutation scanning of the entire coding region
Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel Labcorp Genetics (formerly Invitae) LabCorp United States	130	81	D Deletion/duplication analysis
Cataract 23 (CTRCT23) via the CRYBA4 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
Congenital Cataracts Panel PreventionGenetics, part of Exact Sciences United States	44	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cataract Panel CGC Genetics Unilabs Portugal	1	118	C Sequence analysis of the entire coding region
Microphthalmia, Anophthalmia and Coloboma Panel CGC Genetics Unilabs Portugal	1	91	C Sequence analysis of the entire coding region
Cataract 23 (sequence analysis of CRYBA4 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
CONGENITAL CATARACTS EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	120	E Sequence analysis of select exons
Comprehensive Eye panel Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine United States	1	695	C Sequence analysis of the entire coding region
Cataract panel. NGS panel of 69 genes. Genologica Medica Spain	146	69	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
Congenital Cataract Gene Sequencing Panel Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine United States	1	49	E Sequence analysis of select exons

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 33

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.