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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
ABCA12 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
|
Invitae Congenital Ichthyosis Panel Invitae United States | 77 | 45 |
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Ichthyosis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 20 | 28 |
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HNL Genomics Connective Tissue Gene Tests United States | 20 | 28 |
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Ichthyosis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 20 | 28 |
|
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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Custom Panel (Multiple Malformations/Anomalies Syndromes) PreventionGenetics, part of Exact Sciences United States | 4 | 1 |
|
Invitae Comprehensive Carrier Screen Invitae United States | 886 | 547 |
|
PreventionGenetics, part of Exact Sciences United States | 177 | 163 |
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Skin and Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States | 124 | 69 |
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Ichthyosis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 20 | 28 |
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HNL Genomics Connective Tissue Gene Tests United States | 20 | 28 |
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Ichthyosis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 20 | 28 |
|
Autosomal Recessive Congenital Ichthyosis (ARCI) via the ABCA12 Gene PreventionGenetics, part of Exact Sciences United States | 2 | 1 |
|
Congenital Ichthyosis and Related Disorders Panel PreventionGenetics, part of Exact Sciences United States | 20 | 19 |
|
Ichthyosis panel. 31-gene NGS panel. Genologica Medica Spain | 58 | 31 |
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Genologica Medica Spain | 122 | 68 |
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Asper Biogene Asper Biogene LLC Estonia | 67 | 47 |
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Institute for Human Genetics University Medical Center Freiburg Germany | 2 | 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.