Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Permanent neonatal diabetes mellitus (deletion/duplication analysis on INS gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
ARSB Gene Mucopolysaccharidosis type 6 NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
Lysosomal Storage Disease Panel Molecular Genetics Laboratory London Health Sciences Centre Canada | 77 | 50 |
|
Genomic Unity® Hearing Loss Disorders Analysis Variantyx, Inc. United States | 1 | 318 |
|
Centogene AG - the Rare Disease Company Germany | 195 | 205 |
|
Centogene AG - the Rare Disease Company Germany | 12 | 22 |
|
Centogene AG - the Rare Disease Company Germany | 1 | 15 |
|
ARSB - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
|
Centogene AG - the Rare Disease Company Germany | 734 | 744 |
|
Centogene AG - the Rare Disease Company Germany | 669 | 688 |
|
Centogene AG - the Rare Disease Company Germany | 829 | 848 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 7 | 112 |
|
Lysosomal Storage Disease Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 1 | 56 |
|
Invitae Comprehensive Deafness Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 405 | 219 |
|
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 624 | 349 |
|
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, part of Exact Sciences United States | 242 | 146 |
|
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.