Clinical and research tests for C1843504 - Genetic Testing Registry (GTR)

Page 2 of 3

Results: 21 to 40 of 46

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Microcephaly and cerebellar hypoplasia panel. 48-gene NGS panel. Genologica Medica Spain	63	48	C Sequence analysis of the entire coding region
Spinal muscular atrophy panel. 30-gene NGS panel. Genologica Medica Spain	65	30	C Sequence analysis of the entire coding region
Horizon 274 Male Natera, Inc. United States	244	254	E Sequence analysis of select exons C Sequence analysis of the entire coding region
Horizon 106 plus TSE Natera, Inc. United States	103	107	E Enzyme assay E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Horizon 106 Natera, Inc. United States	103	106	E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Horizon 274 Plus TSE Natera, Inc. United States	265	275	E Enzyme assay E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Horizon 274 Natera, Inc. United States	265	274	E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Horizon 274 Natera, Inc. United States	265	274	E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Brain Malformations Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	111	56	C Sequence analysis of the entire coding region
Neuromuscular Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	138	62	C Sequence analysis of the entire coding region
Pontocerebellar hypoplasia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	20	18	C Sequence analysis of the entire coding region
Spinal Muscular Atrophy and related Disorders , Panel Massive Sequencing (NGS) 19 Genes Reference Laboratory Genetics Spain	20	19	C Sequence analysis of the entire coding region
Pontocerebellar Hypoplasia , Panel Massive Sequencing (NGS) 8 Genes Reference Laboratory Genetics Spain	10	8	C Sequence analysis of the entire coding region
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Reference Laboratory Genetics Spain	159	111	C Sequence analysis of the entire coding region
PONTOCEREBELLAR HYPOPLASIA TYPE 1 Laboratorio de Genetica Clinica SL Spain	3	4	C Sequence analysis of the entire coding region
Neuromuscular Disorders NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	233	144	C Sequence analysis of the entire coding region
Atypical Spinal Muscular Atrophy Advanced Sequencing Evaluation Athena Diagnostics United States	10	10	C Sequence analysis of the entire coding region
Single gene testing VRK1 CeGaT GmbH Germany	1	1	C Sequence analysis of the entire coding region
Spinal Muscular Atrophy (SMA) Panel CeGaT GmbH Germany	44	27	C Sequence analysis of the entire coding region
Ataxia and differential diagnoses Panel CeGaT GmbH Germany	173	204	C Sequence analysis of the entire coding region

<< First < Prev

Page 2 of 3

Next >Last >>

Results: 21 to 40 of 46

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

Molecular Genetics

Test service

Laboratory certification

Specimen type

Laboratory location

Other countries

Results: 21 to 40 of 46

Results: 21 to 40 of 46