Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Centogene AG - the Rare Disease Company Germany | 498 | 498 |
|
Centogene AG - the Rare Disease Company Germany | 499 | 499 |
|
Centogene AG - the Rare Disease Company Germany | 740 | 728 |
|
Invitae Skeletal Disorders Panel Invitae United States | 624 | 349 |
|
Invitae Limb and Digital Malformations Panel Invitae United States | 356 | 177 |
|
Polydactyly and Syndactyly Panel PreventionGenetics, part of Exact Sciences United States | 320 | 231 |
|
PreventionGenetics, part of Exact Sciences United States | 220 | 128 |
|
Congenital Limb Malformation Panel PreventionGenetics, part of Exact Sciences United States | 103 | 99 |
|
Limb reduction defects (WES based NGS panel of 141 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 141 |
|
Skeletal Dysplasias and Disorders Panel CGC Genetics Unilabs Portugal | 1 | 606 |
|
Mendelics Brazil | 1 | 333 |
|
GLOBAL CILIOPATHIES EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 273 |
|
BRACHYDACTYLY & SYNDACTYLY PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 27 |
|
Laboratorio de Genetica Clinica SL Spain | 1 | 643 |
|
Central skeletal dysplasias panel. NGS panel of 111 genes. Genologica Medica Spain | 258 | 111 |
|
Micromelic dysplasia panel. NGS panel of 27 genes. Genologica Medica Spain | 83 | 27 |
|
Brachydactyly / syndactyly panel. NGS panel of 20 genes. Genologica Medica Spain | 55 | 20 |
|
Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain | 373 | 169 |
|
Brachydactyly: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 10 | 8 |
|
Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
|
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.