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Other countries
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
MPLKIP - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 157 | 151 |
|
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 971 | 680 |
|
Invitae Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 754 | 562 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Trichothiodystrophy Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 6 | 6 |
|
Trichothiodystrophy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 6 | 6 |
|
HNL Genomics Connective Tissue Gene Tests United States | 6 | 6 |
|
Invitae Primary Immunodeficiency Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 603 | 446 |
|
Invitae Ectodermal Dysplasia and Related Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 148 | 73 |
|
Trichothiodystrophy, nonphotosensitive 1 (sequence analysis of MPLKIP gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Ectodermal dysplasia panel. 23-gene NGS panel. Genologica Medica Spain | 60 | 23 |
|
Ichthyosis panel. 31-gene NGS panel. Genologica Medica Spain | 58 | 31 |
|
Duzen Laboratories Duzen BBAGUAS Turkey | 1 | 1 |
|
Institute for Human Genetics University Medical Center Freiburg Germany | 1 | 1 |
|
Trichothiodystrophy: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 6 | 6 |
|
Fulgent Genetics United States | 98 | 43 |
|
Amish Brittle Hair Brain Syndrome (MPLKIP) Targeted Testing DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States | 1 | 1 |
|
Ichthyoses and related disorders of cornification Panel CeGaT GmbH Germany | 42 | 65 |
|
Fulgent Genetics United States | 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.