Clinical and research tests for 444 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Cardiovascular Diseases_General Panel Health in Code Spain	1	380	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
Traboulsi syndrome, 601552, Autosomal recessive; FDLAB (Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome) (ASPH 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
Cardiac channelopathies panel Molecular Cardiology Laboratories Istituti Clinici Scientifici Maugeri, IRCCS Italy	9	32	S Mutation scanning 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
Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel Invitae United States	130	81	D Deletion/duplication analysis
Axenfeld-Rieger Syndrome Panel PreventionGenetics, part of Exact Sciences United States	14	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ocular anterior segment mesenchymal dysgenesis (WES based NGS panel of 18 genes, including analysis of CNVs) CGC Genetics Unilabs Portugal	1	18	C Sequence analysis of the entire coding region
Ectopia lentis panel. 14-gene NGS panel. Genologica Medica Spain	26	14	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
Custom Cardiology Sequencing and Del/Dup Panel GeneDx United States	30	270	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ectopia Lentis Asper Biogene Asper Biogene LLC Estonia	30	18	C Sequence analysis of the entire coding region
Ectopia Lentis NGS Panel Fulgent Genetics United States	49	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ectopia Lentis Panel Blueprint Genetics Finland	1	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Sudden Cardiac Death Molecular Cardiology Laboratories Istituti Clinici Scientifici Maugeri, IRCCS Italy	2	31	S Mutation scanning 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
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis Asper Biogene Asper Biogene LLC Estonia	37	35	C Sequence analysis of the entire coding region
Eye Diseases - panels MGZ Medical Genetics Center Germany	6	167	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ASPH Single Gene Fulgent Genetics United States	10	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ectopia Lentis MGZ Medical Genetics Center Germany	2	10	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.