Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Invitae Congenital Disorders of Glycosylation Panel Invitae United States | 203 | 152 |
|
Institute for Human Genetics University Medical Center Freiburg Germany | 1 | 1 |
|
CGC Genetics Unilabs Portugal | 1 | 837 |
|
Movement diseases (WES based NGS panel of 931 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 10 | 930 |
|
Skeletal Dysplasias and Disorders Panel CGC Genetics Unilabs Portugal | 1 | 606 |
|
Schneckenbecken dysplasia (sequence analysis of SLC35D1 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Mendelics Brazil | 1 | 333 |
|
Laboratorio de Genetica Clinica SL Spain | 1 | 643 |
|
CONGENITAL GLYCOSYLATION DISORDERS SYNDROME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 90 |
|
Micromelic dysplasia panel. NGS panel of 27 genes. Genologica Medica Spain | 83 | 27 |
|
Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain | 373 | 169 |
|
Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
|
Prenatal Skeletal Dysplasia Panel GeneDx United States | 17 | 48 |
|
GeneDx United States | 10 | 29 |
|
Congenital Disorders of Glycosylation Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States | 51 | 41 |
|
NewbornDx Advanced Sequencing Evaluation Athena Diagnostics United States | 1 | 1722 |
|
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Blueprint Genetics Finland | 2 | 308 |
|
Comprehensive Skeletal Dysplasias and Disorders Panel Blueprint Genetics Finland | 1 | 246 |
|
Mental retardation - different panels Institute of Human Genetics Cologne University Germany | 7 | 2536 |
|
Blueprint Genetics Finland | 6 | 27 |
|
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.