Clinical and research tests for 29072 - Genetic Testing Registry (GTR)

Page 2 of 6

Results: 21 to 40 of 104

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Monogenic Obesity Panel Labcorp Genetics (formerly Invitae) LabCorp United States	92	68	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hematological Malignancy Fusion Panel Laboratory for Molecular Pediatric Pathology Boston Children's Hospital United States	8	71	R RNA analysis
Invitae Overgrowth Syndromes Panel Labcorp Genetics (formerly Invitae) LabCorp United States	96	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
GTC-Solid Tumor Profile Plus Fusion/Expression (DNA and RNA) Genomic Testing Cooperative, LCA United States	1	434	R RNA analysis C Sequence analysis of the entire coding region
GTC-Solid Tumor Profile Genomic Testing Cooperative, LCA United States	1	434	C Sequence analysis of the entire coding region
FusionPlex Pan-Heme Panel Clinical Genomics Laboratory Laboratory for Precision Diagnostics, University of Washington United States	6	49	R RNA analysis
Luscan-Lumish syndrome, 616831, Autosomal dominant (SETD2 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
Luscan-Lumish syndrome, 616831, Autosomal dominant (SETD2 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
SmartGenomics GYN Profile with Microsatellite Instability Analysis PathGroup United States	6	52	I Microsatellite instability testing (MSI) T Targeted variant analysis
Comprehensive HemeComplete Profile with IGH Somatic Hypermutation PathGroup United States	13	161	E Sequence analysis of select exons T Targeted variant analysis
HemeComplete NextGen Sequencing Assay with Calreticulin Exon 9 Mutation, FLT3 ITD and TKD Analysis and T-Cell Clonality Analysis PathGroup United States	23	160	T Targeted variant analysis
HemeComplete NextGen Sequencing Assay with Calreticulin Exon 9 Mutation, FLT3 ITD and TKD Analysis and JAK2 V617F Quant PathGroup United States	18	160	T Targeted variant analysis
Comprehensive HemeComplete Profile + CALR PCR + FLT3 PCR + BCR/ABL1 IS PathGroup United States	17	160	T Targeted variant analysis
Comprehensive HemeComplete Profile + CALR PCR + FLT3 PCR + BCR/ABL1 PathGroup United States	17	160	T Targeted variant analysis
Comprehensive HemeComplete Profile + CALR PCR + FLT3 PCR PathGroup United States	16	160	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
Genomic Unity Epilepsy Analysis (includes STR analysis of 6 loci) Variantyx, Inc. United States	1	378	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Overgrowth and Macrocephaly Syndromes Panel PreventionGenetics, part of Exact Sciences United States	145	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Epilepsy - Intellectual Disability - Autism Spectrum Disorder Amplexa Genetics Amplexa Genetics A/S Denmark	1	600	S Mutation scanning of the entire coding region

<< First < Prev

Page 2 of 6

Next >Last >>

Results: 21 to 40 of 104

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.

Filters

Test type

Test purpose

Test method

Biochemical Genetics

Cytogenetics

Molecular Genetics

Test service

Laboratory certification

Specimen type

Laboratory location

Other countries

Results: 21 to 40 of 104

Results: 21 to 40 of 104