Filters
Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
ZMPSTE24 Gene Mandibuloacral dysplasia with type B lipodystrophy NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
ZMPSTE24 Gene Restrictive dermopathy, lethal NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 23 | 12 |
|
Comprehensive Nephrology Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 1 | 299 |
|
FSGS/Nephrotic Syndrome Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 25 | 56 |
|
ZMPSTE24 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 247 | 262 |
|
Centogene AG - the Rare Disease Company Germany | 157 | 151 |
|
Invitae Congenital Ichthyosis Panel Invitae United States | 77 | 45 |
|
Invitae Skeletal Disorders Panel Invitae United States | 624 | 349 |
|
PreventionGenetics, part of Exact Sciences United States | 101 | 54 |
|
Congenital contracture syndrome extended Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 10 | 31 |
|
Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel HNL Genomics Connective Tissue Gene Tests United States | 13 | 22 |
|
Congenital contracture syndrome extended NGS panel HNL Genomics Connective Tissue Gene Tests United States | 10 | 31 |
|
Congenital contracture syndrome extended Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 10 | 31 |
|
Lethal congenital contracture syndrome and related disorders NGS Panel HNL Genomics Connective Tissue Gene Tests United States | 13 | 22 |
|
Lethal congenital contracture syndrome and related disorders Comprehensive Panel HNL Genomics Connective Tissue Gene Tests United States | 13 | 22 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 110 | 50 |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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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.