Clinical and research tests for C4225398 - 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 23

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Distal Arthrogryposis Panel Genetic Services Laboratory University of Chicago United States	12	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NGS Panel for Neurodegeneration with Brain Iron Accumulation Disorders (NBIA) BloodGenetics Spain	39	33	C Sequence analysis of the entire coding region
NALCN - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	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
Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266, Autosomal dominant; CLIFAHDD (Digitotalar dysmorphism) (NALCN 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
Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266, Autosomal dominant; CLIFAHDD (Digitotalar dysmorphism) (NALCN 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
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
NeuromuscularZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	480	254	C Sequence analysis of the entire coding region
Ataxia Exome Genetic Services Laboratory University of Chicago United States	294	481	C Sequence analysis of the entire coding region
Comprehensive Neuromuscular Panel PreventionGenetics, part of Exact Sciences United States	185	142	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Neurodegeneration with Brain Iron Accumulation Panel PreventionGenetics, part of Exact Sciences United States	18	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Distal Arthrogryposis Panel PreventionGenetics, part of Exact Sciences United States	14	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Myopathy Panel PreventionGenetics, part of Exact Sciences United States	58	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Arthrogryposis panel. NGS panel of 69 genes. Genologica Medica Spain	135	69	C Sequence analysis of the entire coding region
Congenital contractures of the limbs and face, hypotonia, and developmental delay: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
Distal Arthrogryposis Panel, Sequencing ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	2	10	C Sequence analysis of the entire coding region
Arthrogryposis Panel GeneDx United States	156	91	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Arthrogryposis NGS Panel Fulgent Genetics United States	175	60	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Contractures NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	81	57	C Sequence analysis of the entire coding region
NALCN Single Gene Fulgent Genetics United States	51	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 23

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.