Clinical and research tests for C0432246 - Genetic Testing Registry (GTR) - NCBI

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

<< First < Prev

Page 2 of 3

Results: 21 to 40 of 48

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hypospadias Panel PreventionGenetics, part of Exact Sciences United States	156	73	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Microcephalic primordial dwarfism NGS panel HNL Genomics Connective Tissue Gene Tests United States	23	21	C Sequence analysis of the entire coding region T Targeted variant analysis
Microcephalic primordial dwarfism Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	23	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Microcephalic primordial dwarfism Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	23	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Differences of Sex Development (DSD) Panel PreventionGenetics, part of Exact Sciences United States	149	158	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Differences of Sex Development (DSD) and Infertility Panel PreventionGenetics, part of Exact Sciences United States	223	238	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Central skeletal dysplasias panel. NGS panel of 111 genes. Genologica Medica Spain	258	111	C Sequence analysis of the entire coding region
Microcephaly and cerebellar hypoplasia panel. 48-gene NGS panel. Genologica Medica Spain	63	48	C Sequence analysis of the entire coding region
Seckel syndrome panel. 6-gene NGS panel. Genologica Medica Spain	10	6	C Sequence analysis of the entire coding region
3M syndrome / primordial dwarfism panel. NGS panel of 24 genes. Genologica Medica Spain	33	24	C Sequence analysis of the entire coding region
Microcephaly Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	67	48	C Sequence analysis of the entire coding region
3-M Syndrome NGS Panel Fulgent Genetics United States	21	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
3-M Syndrome / Primordial Dwarfism Panel Blueprint Genetics Finland	8	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Comprehensive NGS Panel Fulgent Genetics United States	729	398	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Selected Genetic Syndromes with skeletal involvement Panel CeGaT GmbH Germany	36	42	C Sequence analysis of the entire coding region
Microcephalic osteodysplastic primordial dwarfism, type II Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Microcephaly and Pontocerebellar Hypoplasia Panel CeGaT GmbH Germany	38	36	C Sequence analysis of the entire coding region
Microcephaly and Pontocerebellar Hypoplasia Panel CeGaT GmbH Germany	38	36	C Sequence analysis of the entire coding region

<< First < Prev

Page 2 of 3

Results: 21 to 40 of 48

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.