Clinical and research tests for 608771 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Distal spinal muscular atrophy 5, autosomal recessive (sequence analysis of DNAJB2 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
MED13L Gene Transposition of the great arteries, dextro-looped 1 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
MED13L Gene Mental retardation and distinctive facial features with or without cardiac defects NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
MED13L - 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
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
CentoCardio Panel Centogene AG - the Rare Disease Company Germany	289	275	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
Invitae Neurodevelopmental Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	404	241	D Deletion/duplication analysis
Nonsyndromic Congenital Heart Disease Panel PreventionGenetics, part of Exact Sciences United States	54	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Autism Spectrum Disorders (ASD) Panel PreventionGenetics, part of Exact Sciences United States	224	170	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
MED13L-Related Syndromic Intellectual Disability via the MED13L Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Mental retardation and distinctive facial features with or without cardiac defects, 616789, Autosomal dominant; MRFACD (Cardiac anomalies-developmental delay-facial dysmorphism syndrome) (MED13L 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
Mental retardation and distinctive facial features with or without cardiac defects, 616789, Autosomal dominant; MRFACD (Cardiac anomalies-developmental delay-facial dysmorphism syndrome) (MED13L gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Transposition of the great arteries, dextro-looped 1, 608808, Autosomal dominant; DTGA1 (Congenitally uncorrected transposition of the great arteries) (MED13L gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Transposition of the great arteries, dextro-looped 1, 608808, Autosomal dominant; DTGA1 (Congenitally uncorrected transposition of the great arteries) (MED13L 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
Top 99 Genetic Causes of Developmental Delay Panel PreventionGenetics, part of Exact Sciences United States	170	99	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Epilepsy - Intellectual Disability - Autism Spectrum Disorder Amplexa Genetics Amplexa Genetics A/S Denmark	1	600	S Mutation scanning of the entire coding region
Invitae Congenital Heart Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	118	55	D Deletion/duplication analysis 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.