Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Invitae Skeletal Disorders Panel Invitae United States | 624 | 349 |
|
Invitae Limb and Digital Malformations Panel Invitae United States | 356 | 177 |
|
Congenital Diaphragmatic Hernia Panel PreventionGenetics, part of Exact Sciences United States | 116 | 65 |
|
Polydactyly and Syndactyly Panel PreventionGenetics, part of Exact Sciences United States | 320 | 231 |
|
Lysosomal Storage Disorders Panel PreventionGenetics, part of Exact Sciences United States | 242 | 146 |
|
PreventionGenetics, part of Exact Sciences United States | 231 | 139 |
|
MASS syndrome, 604308 (MASS syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
MASS syndrome, 604308 (MASS syndrome) (FBN1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Generalized, Partial and Atypical Lipodystrophy Panel PreventionGenetics, part of Exact Sciences United States | 57 | 29 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 110 | 45 |
|
Quantitative Genomic Medicine Laboratories, SL Spain | 184 | 162 |
|
Invitae United States | 409 | 164 |
|
Invitae United States | 208 | 81 |
|
Invitae 78 Gene Actionable Disorders Panel Invitae United States | 220 | 75 |
|
Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States | 166 | 101 |
|
PreventionGenetics, part of Exact Sciences United States | 157 | 171 |
|
Overgrowth and Macrocephaly Syndromes Panel PreventionGenetics, part of Exact Sciences United States | 145 | 112 |
|
Ambry Genetics United States | 50 | 35 |
|
FBN1 gene sequence and deletion/duplication reflex to TAADNext® Ambry Genetics United States | 50 | 35 |
|
Ambry Genetics United States | 236 | 167 |
|
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.