Clinical and research tests for C0220769 - Genetic Testing Registry (GTR) - NCBI

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

<< First< Prev

Page 1 of 4

Results: 1 to 20 of 79

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Aortic diseases Panel Health in Code Spain	71	35	C Sequence analysis of the entire coding region
MED12 - NGS including CNV analysis Centogene US, LLC - The Rare Disease Company United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Solid Tumor Panel Centogene US, LLC - The Rare Disease Company United States	218	135	C Sequence analysis of the entire coding region
Solid Tumor Panel Centogene AG - the Rare Disease Company Germany	218	135	C Sequence analysis of the entire coding region
MED12 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Connective Tissue Disorders Panel Invitae United States	195	92	D Deletion/duplication analysis
Invitae Neurodevelopmental Disorders Panel Invitae United States	404	241	D Deletion/duplication analysis
Invitae Overgrowth Syndromes Panel Invitae United States	113	56	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Brain Malformations Panel Invitae United States	247	161	D Deletion/duplication analysis
Epilepsy exome Genetic Services Laboratory University of Chicago United States	47	125	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Polydactyly and Syndactyly Panel PreventionGenetics United States	320	231	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Opitz-Kaveggia syndrome, 305450, X-linked recessive; OKS (FG syndrome type 1) (MED12 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Opitz-Kaveggia syndrome, 305450, X-linked recessive; OKS (FG syndrome type 1) (MED12 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Syndactyly Panel PreventionGenetics United States	220	128	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Top 99 Genetic Causes of Developmental Delay Panel PreventionGenetics United States	170	99	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Mendelian Disorders with Psychiatric Symptoms Panel Invitae United States	247	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Connective Tissue Disorders Panel PreventionGenetics United States	164	99	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Overgrowth and Macrocephaly Syndromes Panel PreventionGenetics United States	150	88	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypospadias Panel PreventionGenetics United States	156	73	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
TAADNext® Ambry Genetics United States	50	35	D Deletion/duplication analysis C Sequence analysis of the entire coding region

<< First< Prev

Page 1 of 4

Results: 1 to 20 of 79

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.