Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
SLC27A4 Gene Ichthyosis prematurity syndrome NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
SLC27A4 - 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 | 777 | 770 |
|
Centogene AG - the Rare Disease Company Germany | 157 | 151 |
|
Invitae Congenital Ichthyosis Panel Invitae United States | 77 | 45 |
|
Invitae Neonatal Respiratory Distress Panel Invitae United States | 163 | 111 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Invitae Comprehensive Carrier Screen Invitae United States | 886 | 547 |
|
Skin and Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States | 124 | 69 |
|
Congenital Ichthyosis and Related Disorders Panel PreventionGenetics, part of Exact Sciences United States | 20 | 19 |
|
CGC Genetics Unilabs Portugal | 1 | 1293 |
|
Hereditary ichthyosis (WES based NGS panel of 57 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 57 |
|
CGC Genetics Unilabs Portugal | 1 | 277 |
|
Ichthyosis prematurity syndrome (sequence analysis of SLC27A4 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
GeneDx United States | 1 | 49 |
|
Integrated Genetics Westborough LabCorp United States | 330 | 746 |
|
Targeted Variant, Fetal Analysis Integrated Genetics Westborough LabCorp United States | 292 | 746 |
|
Integrated Genetics Westborough LabCorp United States | 330 | 746 |
|
Integrated Genetics Westborough LabCorp United States | 292 | 597 |
|
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.