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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Hydrops fetalis panel for lysosomal disorders Lysosomal Diseases Testing Laboratory Thomas Jefferson University United States | 23 | 7 |
|
Lysosomal Diseases Testing Laboratory Thomas Jefferson University United States | 57 | 18 |
|
GLB1 - NGS including CNV analysis Centogene US, LLC - The Rare Disease Company United States | 4 | 1 |
|
GLB1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 4 | 1 |
|
Carrier Screening Guidelines-Based Panel Ambry Genetics United States | 199 | 165 |
|
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States | 971 | 680 |
|
Invitae Neurodevelopmental Disorders Panel Invitae United States | 404 | 241 |
|
Invitae Comprehensive Neurometabolic Disorders Panel Invitae United States | 351 | 249 |
|
Invitae Comprehensive Deafness Panel Invitae United States | 405 | 219 |
|
Invitae Skeletal Disorders Panel Invitae United States | 624 | 349 |
|
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States | 646 | 420 |
|
Non-Immune Hydrops Fetalis Panel PreventionGenetics United States | 291 | 148 |
|
Mucopolysaccharidosis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 17 | 14 |
|
Mucopolysaccharidosis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 17 | 14 |
|
Mucopolysaccharidosis NGS panel HNL Genomics Connective Tissue Gene Tests United States | 17 | 14 |
|
Lysosomal Storage Disorders Panel PreventionGenetics United States | 242 | 146 |
|
Intergen Genetic Diagnosis and Research Centre Turkey | 1 | 1 |
|
Intergen Genetic Diagnosis and Research Centre Turkey | 1 | 1 |
|
Invitae Metabolic Non-Immune Fetal Hydrops Panel Invitae United States | 50 | 51 |
|
Invitae Mendelian Disorders with Psychiatric Symptoms Panel Invitae United States | 247 | 163 |
|
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.