Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States | 4 | 1 |
|
Schwannomatosis Panel on Tumor Block Medical Genomics Laboratory Department of Genetics UAB United States | 2 | 3 |
|
FAMILIAL SCHWANNOMATOSI - SMARCB1/INI1 gene Clinical Genomics Unit Hospital Universitari Germans Trias i Pujol Spain | 2 | 3 |
|
NEUROFIBROMATOSI DE TYPE 2 - NF2 gene Clinical Genomics Unit Hospital Universitari Germans Trias i Pujol Spain | 3 | 3 |
|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
Centogene AG - the Rare Disease Company Germany | 156 | 107 |
|
Centogene AG - the Rare Disease Company Germany | 218 | 135 |
|
Centogene AG - the Rare Disease Company Germany | 3 | 1 |
|
NF2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 3 | 1 |
|
SMARCB1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 3 | 1 |
|
Invitae Multi-Cancer + RNA Panel Invitae United States | 143 | 63 |
|
Invitae Neurodevelopmental Disorders Panel Invitae United States | 404 | 241 |
|
Invitae Comprehensive Deafness Panel Invitae United States | 405 | 219 |
|
Invitae Limb and Digital Malformations Panel Invitae United States | 356 | 177 |
|
Invitae Brain Malformations Panel Invitae United States | 247 | 161 |
|
Congenital Diaphragmatic Hernia Panel PreventionGenetics, part of Exact Sciences United States | 116 | 65 |
|
Noonan spectrum disorder Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 31 | 25 |
|
Noonan spectrum disorder Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 31 | 25 |
|
Noonan spectrum disorder NGS panel HNL Genomics Connective Tissue Gene Tests United States | 31 | 25 |
|
Schwannomatosis, 162091, Autosomal dominant; SWNTS1 (Neurofibromatosis type 3) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
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.